Gene Detail

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Variant	Impact	Protein Effect	Variant Description
A1127V	missense	unknown	ATM A1127V does not lie within any known functional domains of the Atm protein (UniProt.org). A1127V has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
A1309T	missense	unknown	ATM A1309T does not lie within any known functional domains of the Atm protein (UniProt.org). A1309T has been identified in the scientific literature (PMID: 24886963, PMID: 31552911, PMID: 12697903), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
A1505V	missense	unknown	ATM A1505V does not lie within any known functional domains of the Atm protein (UniProt.org). A1505V has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
A1742P	missense	loss of function - predicted	ATM A1742P does not lie within any known functional domains of the Atm protein (UniProt.org). A1742P results in decreased kinase activity in patient cells (PMID: 16014569), and therefore, is predicted to lead to a loss of Atm protein function.
A1812P	missense	unknown	ATM A1812P does not lie within any known functional domains of the Atm protein (UniProt.org). A1812P has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
A1950T	missense	unknown	ATM A1950T lies within the FAT domain of the Atm protein (UniProt.org). A1950T has been identified in sequencing studies (PMID: 26960398, PMID: 32268276), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
A2062V	missense	loss of function - predicted	ATM A2062V lies within the FAT domain of the Atm protein (UniProt.org). A2062V results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
A2067D	missense	loss of function	ATM A2067D lies within the FAT domain of the Atm protein (UniProt.org). A2067D confers a loss of function to Atm, resulting in reduced Atm protein expression and decreased Atm kinase activity in cell culture (PMID: 25077176).
A220V	missense	no effect - predicted	ATM A220V does not lie within any known functional domains of the Atm protein (UniProt.org). A220V restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
A2274T	missense	no effect - predicted	ATM A2274T lies within the FAT domain of the Atm protein (UniProt.org). A2274T results in phosphorylation levels of Atm and downstream targets similar to wild-type Atm in response to irradiation in cultured cells (PMID: 19431188), and leads to kinase activity, radiosensitivity, and radiation-induced chromosome aberrations similar to wild-type protein in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
A2308T	missense	unknown	ATM A2308T lies within the FAT domain of the Atm protein (UniProt.org). A2308T has been identified in sequencing studies (PMID: 24145436, PMID: 33007380), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
A2420G	missense	unknown	ATM A2420G lies within the FAT domain of the Atm protein (UniProt.org). A2420G has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2024).
A2524P	missense	unknown	ATM A2524P lies within the FAT domain of the Atm protein (UniProt.org). A2524P has been identified in sequencing studies (PMID: 32183364, PMID: 34974877, PMID: 36161273), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
A2602fs	frameshift	loss of function - predicted	ATM A2602fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2602 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A2602fs has not been characterized however, due to the effects of other truncation mutations downstream of A2602 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
A2622T	missense	unknown	ATM A2622T does not lie within any known functional domains of the Atm protein (UniProt.org). A2622T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
A2843V	missense	unknown	ATM A2843V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). A2843V has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
A3006T	missense	unknown	ATM A3006T does not lie within any known functional domains of the Atm protein (UniProt.org). A3006T has been identified in sequencing studies (PMID: 27147599, PMID: 23415222, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
A302fs	frameshift	loss of function	ATM A302fs results in a change in the amino acid sequence of the Atm protein beginning at aa 302 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A302fs results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
A59S	missense	loss of function - predicted	ATM A59S does not lie within any known functional domains of the Atm protein (UniProt.org). A59S results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
amp	none	no effect	ATM amplification indicates an increased number of copies of the ATM gene. However, the mechanism causing the increase is unspecified.
C2464R	missense	no effect - predicted	ATM C2464R lies within the FAT domain of the Atm protein (UniProt.org). C2464R results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
C2488Y	missense	loss of function - predicted	ATM C2488Y lies within the FAT domain of the Atm protein (UniProt.org). C2488Y results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
C353fs	frameshift	loss of function - predicted	ATM C353fs results in a change in the amino acid sequence of the Atm protein beginning at aa 353 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). C353fs has not been characterized, however, due to the effects of other truncation mutations downstream of C353 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
C430S	missense	unknown	ATM C430S does not lie within any known functional domains of the Atm protein (UniProt.org). C430S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
C532Y	missense	unknown	ATM C532Y does not lie within any known functional domains of the Atm protein (UniProt.org). C532Y has been identified in the scientific literature (PMID: 11756177, PMID: 28779002), but has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
C540*	nonsense	loss of function - predicted	ATM C540* results in a premature truncation of the Atm protein at amino acid 540 of 3056 (UniProt.org). C540* has not been characterized, however, due to the effects of other truncation mutations downstream of C540 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
C730Y	missense	unknown	ATM C730Y does not lie within any known functional domains of the Atm protein (UniProt.org). C730Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
D126E	missense	unknown	ATM D126E does not lie within any known functional domains of the Atm protein (UniProt.org). D126E has been identified in the scientific literature (PMID: 11443540, PMID: 16520463, PMID: 24793135), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D1285G	missense	unknown	ATM D1285G does not lie within any known functional domains of the Atm protein (UniProt.org). D1285G has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
D1682H	missense	loss of function - predicted	ATM D1682H does not lie within any known functional domains of the Atm protein (UniProt.org). D1682H results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
D1682Y	missense	loss of function - predicted	ATM D1682Y does not lie within any known functional domains of the Atm protein (UniProt.org). D1682Y results in defective kinase activity in patient cells (PMID: 16014569), and therefore, is predicted to lead to a loss of Atm protein function.
D1853N	missense	no effect - predicted	ATM D1853N does not lie within any known functional domains of the Atm protein (Uniprot.org). D1853N demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
D1853V	missense	no effect - predicted	ATM D1853V does not lie within any known functional domains of the Atm protein (UniProt.org). D1853V demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
D1963N	missense	unknown	ATM D1963N lies within the FAT domain of the Atm protein (UniProt.org). D1963N has been identified in the scientific literature (PMID: 24983367, PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D2320N	missense	unknown	ATM D2320N lies within the FAT domain of the Atm protein (UniProt.org). D2320N has been identified in sequencing studies (PMID: 26314984), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
D2395V	missense	unknown	ATM D2395V lies within the FAT domain of the Atm protein (UniProt.org). D2395V has been identified in sequencing studies (PMID: 22952040), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
D2448A	missense	unknown	ATM D2448A lies within the FAT domain of the Atm protein (UniProt.org). D2448A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
D2448G	missense	unknown	ATM D2448G lies within the FAT domain of the Atm protein (UniProt.org). D2448G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
D2625_A2626delinsEP	indel	unknown	ATM D2625_A2626delinsEP results in a deletion of two amino acids of the Atm protein from amino acids 2625 to 2626, combined with the insertion of a glutamic acid (E) and a proline (P) at the same site (UniProt.org). D2625_A2626delinsEP has been identified in the scientific literature (PMID: 31963394, PMID: 33436325), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
D2708N	missense	loss of function	ATM D2708N does not lie within any known functional domains of the Atm protein (UniProt.org). D2708N results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
D2720H	missense	unknown	ATM D2720H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D2720N	missense	unknown	ATM D2720N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720N has been identified in sequencing studies (PMID: 27147599, PMID: 33054084), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
D2721N	missense	unknown	ATM D2721N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721N has been identified in sequencing studies (PMID: 30836094, PMID: 38371338, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D2721Y	missense	unknown	ATM D2721Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721Y has been identified in sequencing studies (PMID: 26675346, PMID: 10939806, PMID: 31537689), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D2725G	missense	unknown	ATM D2725G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725G has been identified in the scientific literature (PMID: 29906251, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D2725V	missense	unknown	ATM D2725V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725V has been identified in sequencing studies (PMID: 24825865, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D2870Y	missense	unknown	ATM D2870Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2870Y has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D351Y	missense	unknown	ATM D351Y does not lie within any known functional domains of the Atm protein (UniProt.org). D351Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
D639G	missense	unknown	ATM D639G does not lie within any known functional domains of the Atm protein (UniProt.org). D639G is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
D983N	missense	unknown	ATM D983N does not lie within any known functional domains of the Atm protein (UniProt.org). D983N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
dec exp	none	no effect	ATM dec exp indicates decreased expression of the Atm protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
del	deletion	loss of function	ATM del indicates a deletion of the ATM gene.
E1072*	nonsense	loss of function - predicted	ATM E1072* results in a premature truncation of the Atm protein at amino acid 1072 of 3056 (UniProt.org). E1072* has not been characterized, however, due to the effects of other truncation mutations downstream of E1072 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E1666*	nonsense	loss of function - predicted	ATM E1666* results in a premature truncation of the Atm protein at amino acid 1666 of 3056 (UniProt.org). E1666* has not been characterized, however, due to the effects of other truncation mutations downstream of E1666 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E1959K	missense	unknown	ATM E1959K lies within the FAT domain of the Atm protein (UniProt.org). E1959K has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
E1978*	nonsense	loss of function - predicted	ATM E1978* results in a premature truncation of the Atm protein at amino acid 1978 of 3056 (UniProt.org). E1978* has not been characterized, however, due to the effects of other truncation mutations downstream of E1978 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E2039*	nonsense	loss of function - predicted	ATM E2039* results in a premature truncation of the Atm protein at amino acid 2039 of 3056 (UniProt.org). E2039* has not been characterized, however, due to the effects of other truncation mutations downstream of E2039 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E2039K	missense	loss of function - predicted	ATM E2039K lies within the FAT domain of the Atm protein (UniProt.org). E2039K results in decreased phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
E2164G	missense	unknown	ATM E2164G lies within the FAT domain of the Atm protein (UniProt.org). E2164G has been identified in sequencing studies (PMID: 30503610, PMID: 26878173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
E2187*	nonsense	loss of function	ATM E2187* results in a premature truncation of the Atm protein at amino acid 2187 of 3056 (UniProt.org). E2187* results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
E2272*	nonsense	loss of function - predicted	ATM E2272* results in a premature truncation of the Atm protein at amino acid 2272 of 3056 (UniProt.org). E2272* has not been characterized, however, due to the effects of other truncation mutations downstream of E2272 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E2294G	missense	unknown	ATM E2294G lies within the FAT domain of the Atm protein (UniProt.org). E2294G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
E2304Gfs*69	frameshift	loss of function - predicted	ATM E2304Gfs69 indicates a shift in the reading frame starting at amino acid 2304 and terminating 69 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). E2304Gfs69 has not been characterized, however, due to the effects of other truncation mutations downstream of E2304 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E2668G	missense	no effect - predicted	ATM E2668G does not lie within any known functional domains of the Atm protein (UniProt.org). E2668G demonstrates phosphorylation levels of Atm and downstream targets in response to irradiation similar to wild-type Atm in cultured cells (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function.
E277*	nonsense	loss of function - predicted	ATM E277* results in a premature truncation of the Atm protein at amino acid 277 of 3056 (UniProt.org). E277* has not been characterized, however, due to the effects of other truncation mutations downstream of E277 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E2904K	missense	unknown	ATM E2904K lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). E2904K has been identified in sequencing studies (PMID: 28667006, PMID: 29360550), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
E2977Rfs*2	frameshift	loss of function - predicted	ATM E2977Rfs2 indicates a shift in the reading frame starting at amino acid 2977 and terminating two residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). E2977Rfs2 has not been characterized, however, due to the effects of other truncation mutations downstream of E2977 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E343*	nonsense	loss of function - predicted	ATM E343* results in a premature truncation of the Atm protein at amino acid 343 of 3056 (UniProt.org). E343* has not been characterized, however, due to the effects of other truncation mutations downstream of E343 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E390*	nonsense	loss of function - predicted	ATM E390* results in a premature truncation of the Atm protein at amino acid 390 of 3056 (UniProt.org). E390* has not been characterized, however, due to the effects of other truncation mutations downstream of E390 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E473*	nonsense	loss of function - predicted	ATM E473* results in a premature truncation of the Atm protein at amino acid 473 of 3056 (UniProt.org). E473* results in the loss of Atm protein expression in patient cells (PMID: 38416404), and due to the effects of other truncation mutations downstream of E473 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E518fs	frameshift	loss of function - predicted	ATM E518fs results in a change in the amino acid sequence of the Atm protein beginning at aa 518 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). E518fs has not been characterized, however, due to the effects of other truncation mutations downstream of E518 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E522*	nonsense	loss of function - predicted	ATM E522* results in a premature truncation of the Atm protein at amino acid 522 of 3056 (UniProt.org). E522* has not been characterized, however, due to the effects of other truncation mutations downstream of E522 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E668*	nonsense	loss of function - predicted	ATM E668* results in a premature truncation of the Atm protein at amino acid 668 of 3056 (UniProt.org). E668* has not been characterized, however, based on the effects of other truncation mutations downstream of E668 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E848Q	missense	unknown	ATM E848Q does not lie within any known functional domains of the Atm protein (UniProt.org). E848Q has been identified in the scientific literature (PMID: 27602502), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
E871K	missense	unknown	ATM E871K does not lie within any known functional domains of the Atm protein (UniProt.org). E871K has been identified in sequencing studies (PMID: 30239046, PMID: 28487787), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
F1025L	missense	loss of function - predicted	ATM F1025L does not lie within any known functional domains of the Atm protein (UniProt.org). F1025L results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
F1683V	missense	unknown	ATM F1683V does not lie within any known functional domains of the Atm protein (UniProt.org). F1683V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
F168L	missense	unknown	ATM F168L does not lie within any known functional domains of the Atm protein (UniProt.org). F168L has been identified in sequencing studies, but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
F2140V	missense	unknown	ATM F2140V lies within the FAT domain of the Atm protein (UniProt.org). F2140V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
F2516C	missense	unknown	ATM F2516C lies within the FAT domain of the Atm protein (UniProt.org). F2516C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
F2571Yfs*4	frameshift	loss of function - predicted	ATM F2571Yfs4 indicates a shift in the reading frame starting at amino acid 2571 and terminating 4 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). F2571Yfs4 has not been characterized, however, due to the effects of other truncation mutations downstream of F2571 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
F2732V	missense	loss of function - predicted	ATM F2732V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2732V results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
F2827C	missense	loss of function	ATM F2827C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2827C results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and failure to from foci in response to irradiation in culture (PMID: 19431188).
F2839L	missense	unknown	ATM F2839L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2839L has been identified in sequencing studies (PMID: 24951259, PMID: 25957691, PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
F570L	missense	unknown	ATM F570L does not lie within any known functional domains of the Atm protein (UniProt.org). F570L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
F582L	missense	unknown	ATM F582L does not lie within any known functional domains of the Atm protein (UniProt.org). F582L has been identified in the scientific literature (PMID: 14695997, PMID: 16574953, PMID: 25625042), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
F858L	missense	no effect - predicted	ATM F858L does not lie within any known functional domains of the Atm protein (UniProt.org). F858L demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
F897I	missense	unknown	ATM F897I does not lie within any known functional domains of the Atm protein (UniProt.org). F897I has been identified in sequencing studies (PMID: 28652578, PMID: 30181556, PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G1459R	missense	unknown	ATM G1459R does not lie within any known functional domains of the Atm protein (UniProt.org). G1459R has been identified in sequencing studies (PMID: 26214590, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G1676fs	frameshift	loss of function - predicted	ATM G1676fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1676 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). G1676fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1676 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
G2023R	missense	unknown	ATM G2023R lies within the FAT domain of the Atm protein (UniProt.org). G2023R has been identified in the scientific literature (PMID: 25625042, PMID: 12149228, PMID: 23091097), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G2083*	nonsense	loss of function - predicted	ATM G2083* results in a premature truncation of the Atm protein at amino acid 2083 of 3056 (UniProt.org). G2083* has not been characterized, however, due to the effects of other truncation mutations downstream of G2083 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
G2287A	missense	no effect - predicted	ATM G2287A lies within the FAT domain of the Atm protein (UniProt.org). G2287A results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
G2694R	missense	unknown	ATM G2694R does not lie within any known functional domains of the Atm protein (UniProt.org). G2694R has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G2695A	missense	unknown	ATM G2695A does not lie within any known functional domains of the Atm protein (UniProt.org). G2695A has been identified in sequencing studies (PMID: 23407552, PMID: 29449575, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G2695C	missense	unknown	ATM G2695C does not lie within any known functional domains of the Atm protein (UniProt.org). G2695C has been identified in sequencing studies (PMID: 31164343, PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G2695S	missense	unknown	ATM G2695S does not lie within any known functional domains of the Atm protein (UniProt.org). G2695S has been identified in sequencing studies (PMID: 25885250, PMID: 29449575, PMID: 29665859), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G2718_K2756del	deletion	loss of function	ATM G2718_K2756del results in the deletion of 39 amino acids in the PI3K/PI4K domain of the Atm protein from amino acids 2718 to 2756 (UniProt.org). G2718_K2756del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
G2765S	missense	loss of function	ATM G2765S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2765S results in decreased protein expression, loss of phosphorylation of Atm downstream targets, and defective G2/M checkpoint in response to irradiation in culture (PMID: 19431188).
G2772R	missense	no effect - predicted	ATM G2772R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2772R results in kinase activity and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
G2867R	missense	loss of function	ATM G2867R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2867R confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
G2891D	missense	unknown	ATM G2891D lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891D has been identified in the scientific literature (PMID: 34174931, PMID: 31101757, PMID: 38039429), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
G2891R	missense	unknown	ATM G2891R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891R has been identified in sequencing studies (PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
G514D	missense	unknown	ATM G514D does not lie within any known functional domains of the Atm protein (UniProt.org). G514D has been identified in sequencing studies (PMID: 24728327, PMID: 11443540, PMID: 12473594), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
H1380Y	missense	loss of function - predicted	ATM H1380Y lies within the c-Abl binding domain of the Atm protein (PMID: 12969974). H1380Y results in defective c-Abl activation upon irradiation in cultured cells (PMID: 12969974), and therefore, is predicted to lead to a loss of Atm protein function.
H1436Y	missense	unknown	ATM H1436Y does not lie within any known functional domains of the Atm protein (UniProt.org). H1436Y is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
H2038D	missense	unknown	ATM H2038D lies within the FAT domain of the Atm protein (UniProt.org). H2038D has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
H2038R	missense	unknown	ATM H2038R lies within the FAT domain of the Atm protein (UniProt.org). H2038R has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
H2038Y	missense	loss of function - predicted	ATM H2038Y lies within the FAT domain of the Atm protein (UniProt.org). H2038Y results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
H2554D	missense	loss of function	ATM H2554D lies within the FAT domain of the Atm protein (UniProt.org). H2554D results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
H2872Q	missense	unknown	ATM H2872Q lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872Q has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
H2872R	missense	unknown	ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
I10fs	frameshift	loss of function - predicted	ATM I10fs results in a change in the amino acid sequence of the Atm protein beginning at aa 10 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I10fs has not been characterized, however, due to the effects of other truncation mutations downstream of I10 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I124V	missense	unknown	ATM I124V does not lie within any known functional domains of the Atm protein (UniProt.org). I124V has been identified in sequencing studies (PMID: 12673804, PMID: 28076423), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
I1294Nfs*8	frameshift	loss of function - predicted	ATM I1294Nfs8 indicates a shift in the reading frame starting at amino acid 1294 and terminating 8 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). I1294Nfs8 has not been characterized, however, due to the effects of other truncation mutations downstream of I1294 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I1441fs	frameshift	loss of function - predicted	ATM I1441fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1441 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I1441fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1441 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I1453fs	frameshift	loss of function - predicted	ATM I1453fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1453 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I1453fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1453 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I1581Nfs*5	frameshift	loss of function - predicted	ATM I1581Nfs5 indicates a shift in the reading frame starting at amino acid 1581 and terminating 5 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). I1581Nfs5 has not been characterized, however, due to the effects of other truncation mutations downstream of I1581 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I1681V	missense	loss of function	ATM I1681V does not lie within any known functional domains of the Atm protein (UniProt.org). I1681V confers a loss of function to the Atm protein as demonstrated by reduced Atm and Tp53 phosphorylation (PMID: 16014569).
I1849fs	frameshift	loss of function - predicted	ATM I1849fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1849 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I1849fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1849 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I2629fs	frameshift	loss of function - predicted	ATM I2629fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2629 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I2629fs has not been characterized, however, due to the effects of other truncation mutations downstream of I2629 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I2701Nfs*17	frameshift	loss of function - predicted	ATM I2701Nfs17 indicates a shift in the reading frame starting at amino acid 2701 and terminating 17 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). I2701Nfs17 has not been characterized, however, due to the effects of other truncation mutations downstream of I2701 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I2888L	missense	unknown	ATM I2888L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888L has been identified in sequencing studies (PMID: 26487540, PMID: 35704974, PMID: 30599207), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
I2888M	missense	unknown	ATM I2888M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888M has been identified in sequencing studies (PMID: 32183364, PMID: 32268276), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
I2888T	missense	unknown	ATM I2888T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888T has been identified in the scientific literature (PMID: 12697903, PMID: 23091097, PMID: 33975862), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
I323V	missense	unknown	ATM I323V does not lie within any known functional domains of the Atm protein (UniProt.org). I323V has been identified in sequencing studies (PMID: 24145436, PMID: 30107175), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
inact mut	unknown	loss of function	ATM inact mut indicates that this variant results in a loss of function of the Atm protein. However, the specific amino acid change has not been identified.
K1410*	nonsense	loss of function - predicted	ATM K1410* results in a premature truncation of the Atm protein at amino acid 1410 of 3056 (UniProt.org). K1410* has not been characterized, however, due to the effects of other truncation mutations downstream of K1410 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
K1773N	missense	unknown	ATM K1773N does not lie within any known functional domains of the Atm protein (UniProt.org). K1773N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
K1807E	missense	loss of function	ATM K1807E does not lie within any known functional domains of the Atm protein (UniProt.org). K1807E results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
K1964E	missense	unknown	ATM K1964E lies within the FAT domain of the Atm protein (UniProt.org). K1964E has been identified in sequencing studies (PMID: 26675346, PMID: 12810666, PMID: 33436325), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
K1992T	missense	no effect - predicted	ATM K1992T lies within the FAT domain of the Atm protein (UniProt.org). K1992T demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
K224E	missense	unknown	ATM K224E does not lie within any known functional domains of the Atm protein (UniProt.org). K224E demonstrates the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), but demonstrates decreased Atm activity in patient-derived cells in another study (PMID: 36029002), and therefore, its effect on Atm protein function is unknown.
K2749I	missense	loss of function - predicted	ATM K2749I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). K2749I results in partial inability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
K2756*	nonsense	loss of function - predicted	ATM K2756* results in a premature truncation of the Atm protein at amino acid 2756 of 3056 (UniProt.org). K2756* has not been characterized, however, due to the effects of other truncation mutations downstream of K2756 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
K2811fs	frameshift	loss of function - predicted	ATM K2811fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2811 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). K2811fs has not been characterized, however, due to the effects of other truncation mutations downstream of K2811 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
K293*	nonsense	loss of function	ATM K293* results in a premature truncation of the Atm protein at amino acid 293 of 3056 (UniProt.org). K293* results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
K3018Q	missense	unknown	ATM K3018Q does not lie within any known functional domains of the Atm protein (UniProt.org). K3018Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2024).
K3043R	missense	unknown	ATM K3043R lies within the FATC domain of the Atm protein (UniProt.org). K3043R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
K468Efs*18	frameshift	loss of function - predicted	ATM K468Efs18 indicates a shift in the reading frame starting at amino acid 468 and terminating 18 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). K468Efs18 has not been characterized, however, due to the effects of other truncation mutations downstream of K468 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
K468fs	frameshift	loss of function - predicted	ATM K468fs results in a change in the amino acid sequence of the Atm protein beginning at 468 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). K468fs has not been characterized, however, due to the effects of other truncation mutations downstream of K468 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L100W	missense	unknown	ATM L100W does not lie within any known functional domains of the Atm protein (UniProt.org). L100W has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L1046R	missense	unknown	ATM L1046R does not lie within any known functional domains of the Atm protein (UniProt.org). L1046R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L1239fs	frameshift	loss of function - predicted	ATM L1239fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1239 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L1239fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1239 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L1322I	missense	no effect - predicted	ATM L1322I does not lie within any known functional domains of the Atm protein (UniProt.org). L1322I results in similar phosphorylation levels of Atm and downstream targets to wild-type Atm in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function.
L1408F	missense	unknown	ATM L1408F does not lie within any known functional domains of the Atm protein (UniProt.org). L1408F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L1408I	missense	unknown	ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 29107334, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L1420F	missense	no effect - predicted	ATM L1420F does not lie within any known functional domains of the Atm protein (UniProt.org). L1420F demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
L1439I	missense	unknown	ATM L1439I does not lie within any known functional domains of the Atm protein (UniProt.org). L1439I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L1449*	nonsense	loss of function - predicted	ATM L1449* results in a premature truncation of the Atm protein at amino acid 1449 of 3056 (UniProt.org). L1449* has not been characterized, however, due to the effects of other truncation mutations downstream of L1449 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L1465P	missense	loss of function	ATM L1465P does not lie within any known functional domains of the Atm protein (UniProt.org). L1465P results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
L15fs	frameshift	loss of function - predicted	ATM L15fs results in a change in the amino acid sequence of the Atm protein beginning at aa 15 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L15fs is predicted to lead to a loss of Atm protein function.
L1675F	missense	unknown	ATM L1675F does not lie within any known functional domains of the Atm protein (UniProt.org). L1675F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L1874F	missense	loss of function - predicted	ATM L1874F does not lie within any known functional domains of the Atm protein (UniProt.org). L1874F results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
L1939V	missense	unknown	ATM L1939V does not lie within any known functional domains of the Atm protein (UniProt.org). L1939V has been identified in sequencing studies (PMID: 20054297, PMID: 30814645), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L1956H	missense	loss of function - predicted	ATM L1956H lies within the FAT domain of the Atm protein (UniProt.org). L1956H results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
L2077I	missense	unknown	ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696, PMID: 34954471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L2307F	missense	loss of function	ATM L2307F lies within the FAT domain of the Atm protein (UniProt.org). L2307F results in decreased activation of Atm downstream signaling and increased apoptosis upon radiation and chemical-induced DNA damage in cell culture (PMID: 36315919).
L2332P	missense	unknown	ATM L2332P lies within the FAT domain of the Atm protein (UniProt.org). L2332P has been identified in the scientific literature (PMID: 25625042, PMID: 12673804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2024).
L2338P	missense	loss of function	ATM L2338P lies within the FAT domain of the Atm protein (UniProt.org). L2338P results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
L2427P	missense	loss of function	ATM L2427P lies within the FAT domain of the Atm protein (UniProt.org). L2427P results in decreased Tp53 phosphorylation and failure to to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
L2427_R2428del	deletion	loss of function	ATM L2427_R2428del results in the deletion of two amino acids in the FAT domain of the Atm protein from amino acids 2427 to 2428 (UniProt.org). L2427_R2428del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
L2452P	missense	loss of function	ATM L2452P lies within the FAT domain of the Atm protein (UniProt.org). L2452P results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
L2492R	missense	unknown	ATM L2492R lies within the FAT domain of the Atm protein (UniProt.org). L2492R has been identified in sequencing studies (PMID: 29449575, PMID: 30181556, PMID: 33151258), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L2561M	missense	unknown	ATM L2561M lies within the FAT domain of the Atm protein (UniProt.org). L2561M has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L2572fs	frameshift	loss of function - predicted	ATM L2572fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2572 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L2572fs has not been characterized, however, due to the effects of other truncation mutations downstream of L2572 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L259I	missense	unknown	ATM L259I does not lie within any known functional domains of the Atm protein (UniProt.org). L259I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L2722M	missense	unknown	ATM L2722M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2722M has been identified in sequencing studies (PMID: 27491810, PMID: 25326804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L2738*	nonsense	loss of function - predicted	ATM L2738* results in a premature truncation of the Atm protein at amino acid 2738 of 3056 (UniProt.org). L2738* has not been characterized, however, due to the effects of other truncation mutations downstream of L2738 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L2780R	missense	unknown	ATM L2780R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2780R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L2877F	missense	unknown	ATM L2877F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2877F has been identified in the scientific literature (PMID: 27206246, PMID: 32680567), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L2890I	missense	unknown	ATM L2890I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890I has been identified in sequencing studies (PMID: 32321774, PMID: 33272240), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
L2890P	missense	unknown	ATM L2890P lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890P has been identified in sequencing studies (PMID: 29429887), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
L2890R	missense	unknown	ATM L2890R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890R has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
L2890V	missense	loss of function - predicted	ATM L2890V lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). L2890V results in defective induction of Tp53 target gene expression in response to DNA damage in cultured patient-derived cells (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
L2953Tfs*3	frameshift	loss of function - predicted	ATM L2953Tfs3 indicates a shift in the reading frame starting at amino acid 2953 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). L2953Tfs3 has not been characterized, however, due to the effects of other truncation mutations downstream of L2953 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L2995I	missense	unknown	ATM L2995I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2995I has been identified in sequencing studies (PMID: 27997549, PMID: 27363283), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
L348_M349insYIV	insertion	unknown	ATM L348_M349insYIV results in the insertion of three amino acids in the Atm protein between amino acids 348 and 349 (UniProt.org). L348_M349insYIV has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L546V	missense	no effect	ATM L546V does not lie within any known functional domains of the Atm protein (UniProt.org). L546V demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
L581V	missense	no effect - predicted	ATM L581V does not lie within any known functional domains of the Atm protein (UniProt.org). L581V restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function.
L694R	missense	unknown	ATM L694R does not lie within any known functional domains of the Atm protein (UniProt.org). L694R has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L762Qfs*4	frameshift	loss of function - predicted	ATM L762Qfs4 indicates a shift in the reading frame starting at amino acid 762 and terminating four residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). L762Qfs4 has not been characterized, however, based on the effects of other truncation mutations downstream of L762 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L804fs	frameshift	loss of function - predicted	ATM L804fs results in a change in the amino acid sequence of the Atm protein beginning at 804 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L804fs has not been characterized, however, due to the effects of other truncation mutations downstream of L804 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L822V	missense	unknown	ATM L822V does not lie within any known functional domains of the Atm protein (UniProt.org). L822V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L942I	missense	unknown	ATM L942I does not lie within any known functional domains of the Atm protein (UniProt.org). L942I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
L991S	missense	unknown	ATM L991S does not lie within any known functional domains of the Atm protein (UniProt.org). L991S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
LOH	deletion	unknown	ATM LOH indicates the loss of one parental copy of the ATM gene, resulting in loss of heterozygosity.
loss	unknown	loss of function	ATM loss indicates loss of the ATM gene, mRNA, and protein.
M1484Rfs*15	frameshift	loss of function - predicted	ATM M1484Rfs15 indicates a shift in the reading frame starting at amino acid 1484 and terminating 15 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). M1484Rfs15 retains Atm expression and phosphorylation in patient samples (PMID: 36555667), however, due to the effects of other truncation mutations downstream of M1484 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
M2405L	missense	unknown	ATM M2405L lies within the FAT domain of the Atm protein (UniProt.org). M2405L has been identified in sequencing studies (PMID: 22952040, PMID: 32268276), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
M2520fs	frameshift	loss of function - predicted	ATM M2520fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2520 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). M2520fs has not been characterized, however, due to the effects of other truncation mutations downstream of M2520 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
M2531T	missense	unknown	ATM M2531T lies within the FAT domain of the Atm protein (UniProt.org). M2531T has been identified in sequencing studies (PMID: 27978560, PMID: 19781682, PMID: 36577833), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
M349K	missense	unknown	ATM M349K does not lie within any known functional domains of the Atm protein (UniProt.org). M349K has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
M779I	missense	unknown	ATM M779I does not lie within any known functional domains of the Atm protein (UniProt.org). M779I has been identified in the scientific literature (PMID: 38416404), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
mutant	unknown	unknown	ATM mutant indicates an unspecified mutation in the ATM gene.
N1356D	missense	unknown	ATM N1356D does not lie within any known functional domains of the Atm protein (UniProt.org). N1356D has been identified in sequencing studies (PMID: 19781682, PMID: 30181556, PMID: 25980754), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
N1650S	missense	unknown	ATM N1650S does not lie within any known functional domains of the Atm protein (UniProt.org). N1650S results in impaired Atm phosphorylation of Tp53 and Chek2 in cultured cells (PMID: 12969974), but in another study restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, its effect on Atm protein function is unknown.
N2326_K2363del	deletion	loss of function - predicted	ATM N2326_K2363del results in the deletion of 38 amino acids in the FAT domain of the Atm protein from amino acids 2326 to 2363 (UniProt.org). N2326_K2363del results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
N2603S	missense	unknown	ATM N2603S does not lie within any known functional domains of the Atm protein (UniProt.org). N2603S has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
N2875H	missense	unknown	ATM N2875H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875H has been identified in the scientific literature (PMID: 26510020), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
N2875K	missense	unknown	ATM N2875K lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). N2875K results in a loss of kinase activity with a co-occuring ATM D2870A (PMID: 9733515), but has not been individually characterized and therefore, its effect on Atm protein function is unknown.
N2875S	missense	unknown	ATM N2875S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875S has been identified in the scientific literature (PMID: 25232094, PMID: 30730459), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
N2875T	missense	unknown	ATM N2875T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875T has been identified in sequencing studies (PMID: 22634756, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
N3033*	nonsense	loss of function	ATM N3033* results in a premature truncation of the Atm protein at amino acid 3033 of 3056 (UniProt.org). N3033* results in a loss of binding to Tip60, and loss of DNA damage-induced Atm phosphorylation, acetylation, and kinase activity in cell culture (PMID: 16603769).
N358I	missense	unknown	ATM N358I does not lie within any known functional domains of the Atm protein (UniProt.org). N358I is associated with a reduction in Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
N765Kfs*12	frameshift	loss of function - predicted	ATM N765Kfs12 indicates a shift in the reading frame starting at amino acid 765 and terminating 12 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). N765Kfs12 has not been characterized, however, due to the effects of other truncation mutations downstream of N765 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
N796H	missense	unknown	ATM N796H does not lie within any known functional domains of the Atm protein (UniProt.org). N796H is associated with a reduction in Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
N81Tfs*20	frameshift	loss of function - predicted	ATM N81Tfs20 indicates a shift in the reading frame starting at amino acid 81 and terminating 20 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). N81Tfs20 has not been characterized, however, due to the effects of other truncation mutations downstream of N81 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
N914S	missense	unknown	ATM N914S does not lie within any known functional domains of the Atm protein (UniProt.org). N914S has been identified in sequencing studies (PMID: 29107334, PMID: 28652578), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
negative	unknown	loss of function	ATM negative indicates a lack of expression of the ATM mRNA and/or protein.
over exp	none	no effect	ATM over exp indicates an over expression of the Atm protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P1054R	missense	no effect	ATM P1054R does not lie within any known functional domains of the Atm protein (UniProt.org). P1054R demonstrates kinase activity equivalent to wild-type Atm, functional G2/M checkoiunt (PMID: 18573109, PMID: 19431188) and ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
P1069fs	frameshift	loss of function - predicted	ATM P1069fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1069 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). P1069fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1069 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
P1235L	missense	unknown	ATM P1235L does not lie within any known functional domains of the Atm protein (UniProt.org). P1235L is associated with retention of Atm expression in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
P178S	missense	unknown	ATM P178S does not lie within any known functional domains of the Atm protein (UniProt.org). P178S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2024).
P2353H	missense	unknown	ATM P2353H lies within the FAT domain of the Atm protein (UniProt.org). P2353H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
P2353T	missense	unknown	ATM P2353T lies within the FAT domain of the Atm protein (UniProt.org). P2353T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
P2665T	missense	unknown	ATM P2665T does not lie within any known functional domains of the Atm protein (UniProt.org). P2665T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
P2699L	missense	loss of function	ATM P2699L lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699L results in decreased protein expression and a loss of phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188).
P2699S	missense	unknown	ATM P2699S lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699S is predicted to impair the kinase activity of Atm based on structural modeling (PMID: 21993670), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown.
P2842L	missense	unknown	ATM P2842L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2842L has been identified in sequencing studies (PMID: 24185509, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
P292L	missense	loss of function	ATM P292L does not lie within any known functional domains of the Atm protein (UniProt.org). P292L results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and impaired G2/M checkpoint in response to irradiation in culture (PMID: 19431188).
P2974L	missense	loss of function	ATM P2974L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2974L confers a loss of function on the Atm protein as demonstrated by reduced phosphorylation of Atm, Chk2, and Tp53, increased DNA damage, and reduced homologous recombination repair activity in culture (PMID: 31160347).
P604S	missense	loss of function - predicted	ATM P604S does not lie within any known functional domains of the Atm protein (UniProt.org). P604S retains Atm expression and phosphorylation in a patient sample (PMID: 36555667) but results in impaired ability to rescue survival of ATM-deficient cells upon irradiation or PARP inhibitor treatment in culture (PMID: 29059438) and therefore, is predicted to lead to a loss of Atm protein function.
P631S	missense	unknown	ATM P631S does not lie within any known functional domains of the Atm protein (UniProt.org). P631S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
P80S	missense	unknown	ATM P80S does not lie within any known functional domains of the Atm protein (UniProt.org). P80S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
P960H	missense	loss of function - predicted	ATM P960H does not lie within any known functional domains of the Atm protein (UniProt.org). P960H results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
positive	unknown	unknown	ATM positive indicates the presence of the ATM gene, mRNA, and/or protein.
Q1128R	missense	unknown	ATM Q1128R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1128R has been identified in the scientific literature (PMID: 35031544, PMID: 35078817, PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Q1171Tfs*8	frameshift	loss of function - predicted	ATM Q1171Tfs8 indicates a shift in the reading frame starting at amino acid 1171 and terminating 8 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Q1171Tfs8 has not been characterized, however, due to the effects of other truncation mutations downstream of Q1171 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q1331H	missense	unknown	ATM Q1331H does not lie within any known functional domains of the Atm protein (UniProt.org). Q1331H has been identified in the scientific literature (PMID: 28055970), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2024).
Q1537R	missense	unknown	ATM Q1537R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1537R has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Q1579fs	frameshift	loss of function - predicted	ATM Q1579fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1579 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Q1579fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1579 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q1627*	nonsense	loss of function - predicted	ATM Q1627* results in a premature truncation of the Atm protein at amino acid 1627 of 3056 (UniProt.org). Q1627* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1627 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q1636Rfs*10	frameshift	loss of function - predicted	ATM Q1636Rfs10 indicates a shift in the reading frame starting at amino acid 1636 and terminating 10 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Q1636Rfs10 has not been characterized, however, due to the effects of other truncation mutations downstream of Q1636 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q1906*	nonsense	loss of function - predicted	ATM Q1906* results in a premature truncation of the Atm protein at amino acid 1906 of 3056 (UniProt.org). Q1906* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1906 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q1919P	missense	unknown	ATM Q1919P does not lie within any known functional domains of the Atm protein (UniProt.org). Q1919P has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Q1970*	nonsense	loss of function - predicted	ATM Q1970* results in a premature truncation of the Atm protein at amino acid 1970 of 3056 (UniProt.org). Q1970* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1970 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2066L	missense	unknown	ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Q2277*	nonsense	loss of function - predicted	ATM Q2277* results in a premature truncation of the Atm protein at amino acid 2277 of 3056 (UniProt.org). Q2277* has not been characterized, however, due to the effects of other truncation mutations downstream of Q2277 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2297*	nonsense	loss of function - predicted	ATM Q2297* results in a premature truncation of the Atm protein at amino acid 2297 of 3056 (UniProt.org). Q2297* has not been characterized, however, due to the effects of other truncation mutations downstream of Q2297 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2397*	nonsense	loss of function - predicted	ATM Q2397* results in a premature truncation of the Atm protein at amino acid 2397 of 3056 (UniProt.org). Q2397* has not been characterized, however, due to the effects of other truncation mutations downstream of Q2397 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2442P	missense	unknown	ATM Q2442P lies within the FAT domain of the Atm protein (UniProt.org). Q2442P has been identified in sequencing studies (PMID: 26316624, PMID: 22634756, PMID: 28247034), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Q2522fs	frameshift	loss of function - predicted	ATM Q2522fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2522 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Q2522fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q2522 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2729H	missense	unknown	ATM Q2729H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2729H has been identified in sequencing studies (PMID: 32183364, PMID: 35626161), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
Q2730P	missense	loss of function	ATM Q2730P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2730P results in decreased protein expression, loss of phosphorylation of Atm and downstream targets, and failure to form foci in response to irradiation in culture (PMID: 19431188).
Q2730R	missense	unknown	ATM Q2730R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2730R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
Q2762R	missense	unknown	ATM Q2762R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2762R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Q2800*	nonsense	loss of function - predicted	ATM Q2800* results in a premature truncation of the Atm protein at amino acid 2800 of 3056 (UniProt.org). Q2800* has not been characterized, however, due to the effects of other truncation mutations downstream of Q2800 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2809P	missense	unknown	ATM Q2809P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2809P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
Q284*	nonsense	loss of function - predicted	ATM Q284* results in a premature truncation of the Atm protein at amino acid 284 of 3056 (UniProt.org). Q284* has not been characterized, however, due to the effects of other truncation mutations downstream of Q284 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2972*	nonsense	loss of function - predicted	ATM Q2972* results in a premature truncation of the Atm protein at amino acid 2972 of 3056 (UniProt.org). Q2972* has not been characterized, however, due to the effects of other truncation mutations downstream of Q2972 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q3038*	nonsense	unknown	ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* has not been characterized in the scientific literature, and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
Q628Pfs*7	frameshift	loss of function - predicted	ATM Q628Pfs7 indicates a shift in the reading frame starting at amino acid 628 and terminating 7 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Q628Pfs7 has not been characterized, however, due to the effects of other truncation mutations downstream of Q628 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1150I	missense	unknown	ATM R1150I does not lie within any known functional domains of the Atm protein (UniProt.org). R1150I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R1304*	nonsense	loss of function - predicted	ATM R1304* results in a premature truncation of the Atm protein at amino acid 1304 of 3056 (UniProt.org). R1304* has not been characterized, however, due to the effects of other truncation mutations downstream of R1304 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1466*	nonsense	loss of function - predicted	ATM R1466* results in a premature truncation of the Atm protein at amino acid 1466 of 3056 (UniProt.org). R1466* has not been characterized, however, due to the effects of other truncation mutations downstream of R1466 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1466P	missense	unknown	ATM R1466P does not lie within any known functional domains of the Atm protein (UniProt.org). R1466P has been identified in sequencing studies (PMID: 25589618, PMID: 29563506, PMID: 30171174), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
R1466Q	missense	unknown	ATM R1466Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1466Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R1575H	missense	no effect	ATM R1575H does not lie within any known functional domains of the Atm protein (UniProt.org). R1575H demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
R1618*	nonsense	loss of function - predicted	ATM R1618* results in a premature truncation of the Atm protein at amino acid 1618 of 3056 (UniProt.org). R1618* has not been characterized, however, due to the effects of other truncation mutations downstream of R1618 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1730*	nonsense	loss of function - predicted	ATM R1730* results in a premature truncation of the Atm protein at amino acid 1730 of 3056 (UniProt.org). R1730* has not been characterized, however, due to the effects of other truncation mutations downstream of R1730 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1730Q	missense	unknown	ATM R1730Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1730Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R1875*	nonsense	loss of function - predicted	ATM R1875* results in a premature truncation of the Atm protein at amino acid 1875 of 3056 (UniProt.org). R1875* has not been characterized, however, due to the effects of other truncation mutations downstream of R1875 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1882*	nonsense	loss of function - predicted	ATM R1882* results in a premature truncation of the Atm protein at amino acid 1882 of 3056 (UniProt.org). R1882* has not been characterized, however, due to the effects of other truncation mutations downstream of R1882 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1898*	nonsense	loss of function - predicted	ATM R1898* results in a premature truncation of the Atm protein at amino acid 1898 of 3056 (UniProt.org). R1898* has not been characterized, however, due to the effects of other truncation mutations downstream of R1898 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R1918T	missense	unknown	ATM R1918T does not lie within any known functional domains of the Atm protein (UniProt.org). R1918T has been identified in sequencing studies (PMID: 28779002, PMID: 33359728), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R2032K	missense	unknown	ATM R2032K lies within the FAT domain of the Atm protein (UniProt.org). R2032K results in aberrant splicing of ATM mRNA, leading to skipping of exon 43 (PMID: 9887333), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown.
R2034*	nonsense	loss of function - predicted	ATM R2034* results in a premature truncation of the Atm protein at amino acid 2034 of 3056 (UniProt.org). R2034* has not been characterized, however, due to the effects of other truncation mutations downstream of R2034 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R2034P	missense	loss of function - predicted	ATM R2034P lies within the FAT domain of the Atm protein (UniProt.org). R2034P results in a loss of Atm protein expression in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
R2138Kfs*8	frameshift	loss of function - predicted	ATM R2138Kfs8 indicates a shift in the reading frame starting at amino acid 2138 and terminating 8 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). R2138Kfs8 has not been characterized, however, due to the effects of other truncation mutations downstream of R2138 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R221I	missense	unknown	ATM R221I does not lie within any known functional domains of the Atm protein (UniProt.org). R221I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R23Q	missense	unknown	ATM R23Q does not lie within any known functional domains of the Atm protein (UniProt.org). R23Q has been identified in sequencing studies (PMID: 26214590, PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R2443P	missense	unknown	ATM R2443P lies within the FAT domain of the Atm protein (UniProt.org). R2443P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R2443Q	missense	unknown	ATM R2443Q lies within the FAT domain of the Atm protein (UniProt.org). R2443Q has been identified in sequencing studies (PMID: 27693639, PMID: 27175599, PMID: 36931573), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R2459C	missense	unknown	ATM R2459C lies within the FAT domain of the Atm protein (UniProt.org). R2459C is associated with lack of ATM expression in the presence of P292R (PMID: 23585524), but has not been individually characterized and therefore, its effect on Atm protein function is unknown.
R248Q	missense	unknown	ATM R248Q does not lie within any known functional domains of the Atm protein (UniProt.org). R248Q has been identified in sequencing studies (PMID: 24145436, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R250*	nonsense	loss of function - predicted	ATM R250* results in a premature truncation of the Atm protein at amino acid 250 of 3056 (UniProt.org). R250* has not been characterized, however, due to the effects of other truncation mutations downstream of S250 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R2506_N2543del	deletion	loss of function	ATM R2506_N2543del results in the deletion of 38 amino acids in the FAT domain of the Atm protein from amino acids 2506 to 2543 (UniProt.org). R2506_N2543del results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
R250Sfs*3	frameshift	loss of function - predicted	ATM R250Sfs3 indicates a shift in the reading frame starting at amino acid 250 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). R250Sfs3 has not been characterized, however, due to the effects of other truncation mutations downstream of R250 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R2526S	missense	unknown	ATM R2526S lies within the FAT domain of the Atm protein (UniProt.org). R2526S has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R2547_S2549del	deletion	loss of function	ATM R2547_S2549del results in the deletion of three amino acids in the FAT domain of the Atm protein from amino acids 2547 to 2549 (UniProt.org). R2547_S2549del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
R2598*	nonsense	loss of function - predicted	ATM R2598* results in a premature truncation of the Atm protein at amino acid 2598 of 3056 (UniProt.org). R2598* has not been characterized, however, due to the effects of other truncation mutations downstream of R2598 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R2598Q	missense	unknown	ATM R2598Q does not lie within any known functional domains of the Atm protein (UniProt.org). R2598Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R2691C	missense	loss of function - predicted	ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and via structural modeling, demonstrates potential for impaired kinase activity of Atm (PMID: 21993670), and therefore, is predicted to lead to a loss of Atm protein function.
R2832C	missense	loss of function	ATM R2832C lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). R2832C confers a loss of function to the Atm protein as demonstrated by reduced Atm protein expression and increased radiosensitivity of cultured cells (PMID: 18634022).
R2832S	missense	unknown	ATM R2832S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2832S has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
R2849*	nonsense	loss of function - predicted	ATM R2849* results in a premature truncation of the Atm protein at amino acid 2849 of 3056 (UniProt.org). R2849* has not been characterized, however, due to the effects of other truncation mutations downstream of R2849 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R2849P	missense	loss of function	ATM R2849P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2849P confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
R2854C	missense	unknown	ATM R2854C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2854C has been identified in sequencing studies (PMID: 32183364, PMID: 32113160), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
R2912Efs*26	frameshift	loss of function - predicted	ATM R2912Efs26 indicates a shift in the reading frame starting at amino acid 2912 and terminating 26 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). R2912Efs26 has not been characterized, however, due to the effects of other truncation mutations downstream of R2912 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R2912G	missense	unknown	ATM R2912G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2912G is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667, PMID: 17166884) and decreased Chk1 phosphorylation compared to wild-type Atm in patient samples (PMID: 17166884), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
R2993*	nonsense	loss of function - predicted	ATM R2993* results in a premature truncation of the Atm protein at amino acid 2993 of 3056 (UniProt.org). R2993* has not been characterized, however, due to the effects of other truncation mutations downstream of R2993 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R3008C	missense	loss of function	ATM R3008C does not lie within any known functional domains of the Atm protein (UniProt.org). R3008C results in decreased phosphorylation of Atm and downstream targets, failure to induce Tp53 target gene expression and form foci, and defective G2/M checkpoint after DNA damage in culture (PMID: 18573109, PMID: 19431188, PMID: 23585524).
R3008H	missense	loss of function	ATM R3008H does not lie within any known functional domains of the Atm protein (UniProt.org). R3008H results in kinase activity, and recruitment to DNA damage similar to wild-type Atm protein, but decreased Atm activation, altered irradiation-induced cell cycle checkpoint, partial loss of tumor suppressor function (PMID: 33239428), and failure to induce Tp53 target gene expression after DNA damage in patient-derived cells (PMID: 23585524).
R3008L	missense	unknown	ATM R3008L does not lie within any known functional domains of the Atm protein (UniProt.org). R3008L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R3008X	missense	unknown	ATM R3008X indicates any ATM missense mutation that results in replacement of the arginine (R) at amino acid 3008 by a different amino acid.
R3047*	nonsense	loss of function - predicted	ATM R3047* results in a premature truncation of the Atm protein at amino acid 3047 of 3056 (UniProt.org). R3047* results in a loss of reactive oxygen species-induced phosphorylation of Atm and downstream targets (PMID: 20966255), but demonstrates conflicting effects on DNA-damage induced ATM activation as indicated by loss of Atm and phosphorylation of downstream targets in response to ionizing irradiation in culture (PMID: 19431188), while resulting in Tp53 phosphorylation in response to MRN complex in an in vitro assay and Atm phosphorylation upon camptothecin treatment in patient cell culture (PMID: 20966255), and therefore, is predicted to lead to a loss of Atm protein function.
R337C	missense	unknown	ATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 30181556, PMID: 29335443, PMID: 27334835), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R337H	missense	unknown	ATM R337H does not lie within any known functional domains of the Atm protein (UniProt.org). R337H has been identified in the scientific literature (PMID: 28480077, PMID: 30181556, PMID: 27749841), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
R337S	missense	loss of function	ATM R337S does not lie within any known functional domains of the Atm protein (UniProt.org). R337S confers a loss of function to the Atm protein as demonstrated by reduced phosphorylation of Atm target proteins, Tp53 and Smc1 (PMID: 16014569).
R337X	missense	unknown	ATM R337X indicates any ATM missense mutation that results in replacement of the arginine (R) at amino acid 337 by a different amino acid.
R45Q	missense	no effect - predicted	ATM R45Q does not lie within any known functional domains of the Atm protein (UniProt.org). R45Q restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to have no effect on Atm protein function.
R805*	nonsense	loss of function - predicted	ATM R805* results in a premature truncation of the Atm protein at amino acid 805 of 3056 (UniProt.org). R805* has not been characterized, however, due to the effects of other truncation mutations downstream of R805 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R832C	missense	unknown	ATM R832C does not lie within any known functional domains of the Atm protein (UniProt.org). R832C has been identified in the scientific literature (PMID: 33181636), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S1135_K1192del	deletion	unknown	ATM S1135_K1192del results in the deletion of 58 amino acids of the Atm protein from amino acids 1135 to 1192 (UniProt.org). S1135_K1192del is associated with loss of Atm expression and phosphorylation in patient samples (PMID: 36555667, PMID: 32748564), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
S131*	nonsense	loss of function - predicted	ATM S131* results in a premature truncation of the Atm protein at amino acid 131 of 3056 (UniProt.org). S131* has not been characterized, however, due to the effects of other truncation mutations downstream of S131 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S1403fs	frameshift	loss of function - predicted	ATM S1403fs results in a change in the amino acid sequence of the Atm protein beginning at 1403 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S1403fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1403 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S1455R	missense	loss of function	ATM S1455R does not lie within any known functional domains of the Atm protein (UniProt.org). S1455R confers a loss of function to the Atm protein as demonstrated by impaired phosphorylation of p53 and Chek2 in cultured cells (PMID: 12969974) and partial inability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438).
S1455Vfs*3	frameshift	loss of function - predicted	ATM S1455Vfs3 indicates a shift in the reading frame starting at amino acid 1455 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1455Vfs3 has not been characterized, however, due to the effects of other truncation mutations downstream of S1455 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S1599*	nonsense	loss of function - predicted	ATM S1599* results in a premature truncation of the Atm protein at amino acid 1599 of 3056 (UniProt.org). S1599* has not been characterized, however, due to the effects of other truncation mutations downstream of S1599 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S1691R	missense	no effect	ATM S1691R does not lie within any known functional domains of the Atm protein (UniProt.org). S1691R demonstrates phosphorylation of Atm and downstream targets and foci formation in response to irradiation to similar levels of wild-type Atm protein in culture (PMID: 19431188).
S1905Ifs*25	frameshift	loss of function - predicted	ATM S1905Ifs25 indicates a shift in the reading frame starting at amino acid 1905 and terminating 25 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1905Ifs25 has not been characterized, however, due to the effects of other truncation mutations downstream of S1905 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S1983N	missense	unknown	ATM S1983N lies within the FAT domain of the Atm protein (UniProt.org). S1983N has been identified in sequencing studies (PMID: 25528188, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S1993fs	frameshift	loss of function - predicted	ATM S1993fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1993 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S1993fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1993 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S1993Rfs*23	frameshift	loss of function - predicted	ATM S1993Rfs23 indicates a shift in the reading frame starting at amino acid 1993 and terminating 23 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1993Rfs23 is associated with the loss of Atm expression and phosphorylation in patient samples (PMID: 36555667), and due to the effects of other truncation mutations downstream of S1993 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2017fs	frameshift	loss of function - predicted	ATM S2017fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2017 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S2017fs has not been characterized, however, due to the effects of other truncation mutations downstream of S2017 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2017T	missense	unknown	ATM S2017T lies within the FAT domain of the Atm protein (UniProt.org). S2017T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2024).
S214Ffs*40	frameshift	loss of function - predicted	ATM S214Ffs40 indicates a shift in the reading frame starting at amino acid 214 and terminating 40 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S214Ffs40 has not been characterized, however, due to the effects of other truncation mutations downstream of S214 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S214fs	frameshift	loss of function - predicted	ATM S214fs results in a change in the amino acid sequence of the Atm protein beginning at aa 214 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S214fs has not been characterized, however, due to the effects of other truncation mutations downstream of S214 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S214Pfs*16	frameshift	loss of function - predicted	ATM S214Pfs16 indicates a shift in the reading frame starting at amino acid 214 and terminating 16 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S214Pfs16 has not been characterized, however, due to the effects of other truncation mutations downstream of S214 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2190*	nonsense	loss of function - predicted	ATM S2190* results in a premature truncation of the Atm protein at amino acid 2190 of 3056 (UniProt.org). S2190* has not been characterized, however, due to the effects of other truncation mutations downstream of S2190 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2394L	missense	loss of function	ATM S2394L lies within the FAT domain of the Atm protein (UniProt.org). S2394L results in decreased protein expression and failure to phosphorylate Atm and downstream targets in response to irradiation in cell culture (PMID: 18573109, PMID: 19431188, PMID: 26677768).
S2407*	nonsense	loss of function - predicted	ATM S2407* results in a premature truncation of the Atm protein at amino acid 2407 of 3056 (UniProt.org). S2407* has not been characterized, however, due to the effects of other truncation mutations downstream of S2407 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2489F	missense	unknown	ATM S2489F lies within the FAT domain of the Atm protein (UniProt.org). S2489F has been identified in sequencing studies (PMID: 24145436, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S2592C	missense	loss of function	ATM S2592C does not lie within any known functional domains of the Atm protein (UniProt.org). S2592C confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
S2685T	missense	no effect	ATM S2685T does not lie within any known functional domains of the Atm protein (UniProt.org). S2685T demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
S2707C	missense	no effect - predicted	ATM S2707C does not lie within any known functional domains of the Atm protein (UniProt.org). S2707C restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to have no effect on Atm protein function.
S2761Vfs*41	frameshift	loss of function - predicted	ATM S2761Vfs41 indicates a shift in the reading frame starting at amino acid 2761 and terminating 41 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S2761Vfs41 has not been characterized, however, due to the effects of other truncation mutations downstream of S2761 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2812Vfs*3	frameshift	loss of function - predicted	ATM S2812Vfs3 indicates a shift in the reading frame starting at amino acid 2812 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S2812Vfs3 has not been characterized, however, due to the effects of other truncation mutations downstream of S2812 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2812Y	missense	unknown	ATM S2812Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2812Y has been identified in sequencing studies (PMID: 27304073), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S2855_V2856delinsRI	indel	loss of function	ATM S2855_V2856delinsRI results in a deletion of two amino acids in the PI3K/PI4K domain of the Atm protein from amino acids 2855 to 2856, combined with the insertion of an arginine (R) and an isoleucine (I) at the same site (UniProt.org). S2855_V2856delinsRI results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
S2859F	missense	unknown	ATM S2859F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2859F has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S2860del	deletion	unknown	ATM S2860del results in the deletion of an amino acid in the PI3K/PI4K domain of the Atm protein at amino acid 2860 (UniProt.org). S2860del has been identified in the scientific literature (PMID: 8845835, PMID: 33127389), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
S3001N	missense	unknown	ATM S3001N does not lie within any known functional domains of the Atm protein (UniProt.org). S3001N has been identified in sequencing studies (PMID: 34646395), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S3027I	missense	unknown	ATM S3027I lies within the FATC domain of the Atm protein (UniProt.org). S3027I has been identified in the scientific literature (PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S333F	missense	loss of function	ATM S333F does not lie within any known functional domains of the Atm protein (UniProt.org). S333F confers a loss of function to the Atm protein as demonstrated by reduced phosphorylation of Atm target proteins Chk2 and H2AX and decreased HDR activity in cultured cells (PMID: 35354106).
S421*	nonsense	loss of function - predicted	ATM S421* results in a premature truncation of the Atm protein at amino acid 421 of 3056 (UniProt.org). S421* has not been characterized, however, due to the effects of other truncation mutations downstream of S421 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S49C	missense	unknown	ATM S49C does not lie within any known functional domains of the Atm protein (UniProt.org). S49C retains the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), results in similar cell survival upon treatment with DNA damaging agents to wild-type Atm, and retains the ability to phosphorylate some Atm targets, but leads to decreased phosphorylation of the Atm target CDC25A, and decreased HDR activity in cultured cells (PMID: 35354106), and therefore, its effect on Atm protein function is unknown.
S707P	missense	unknown	ATM S707P does not lie within any known functional domains of the Atm protein (UniProt.org). S707P has been associated with a modest increased risk of breast cancer (PMID: 20826828), and results in decreased Atm protein expression in cultured cells (PMID: 31664505), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
S719*	nonsense	loss of function - predicted	ATM S719* results in a premature truncation of the Atm protein at amino acid 719 of 3056 (UniProt.org). S719* has not been characterized, however, due to the effects of other truncation mutations downstream of S719 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S751*	nonsense	loss of function - predicted	ATM S751* results in a premature truncation of the Atm protein at amino acid 751 of 3056 (UniProt.org). S751* is associated with loss of Atm expression and phosphorylation in patient samples in the context of S1135_K1192del (PMID: 32748564), and due to the effects of other truncation mutations downstream of S751 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S824F	missense	loss of function - predicted	ATM S824F does not lie within any known functional domains of the Atm protein (UniProt.org). S824F results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
S978A	missense	unknown	ATM S978A does not lie within any known functional domains of the Atm protein (UniProt.org). S978A is predicted to lose its interaction with the Asp741 residue of Nbs1 based on structural modeling (PMID: 35076389), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S978C	missense	unknown	ATM S978C does not lie within any known functional domains of the Atm protein (UniProt.org). S978C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S978fs	frameshift	loss of function - predicted	ATM S978fs results in a change in the amino acid sequence of the Atm protein beginning at 978 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S978fs has not been characterized, however, due to the effects of other truncation mutations downstream of S978 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S978P	missense	unknown	ATM S978P does not lie within any known functional domains of the Atm protein (UniProt.org). S978P is predicted to disrupt the Nbs-1 binding site based on protein structure (PMID: 35076389), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
S99G	missense	unknown	ATM S99G does not lie within any known functional domains of the Atm protein (UniProt.org). S99G has been identified in sequencing studies (PMID: 19781682, PMID: 36525262), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
T1200Lfs*7	frameshift	loss of function - predicted	ATM T1200Lfs7 indicates a shift in the reading frame starting at amino acid 1200 and terminating 6 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). T1200Lfs7 has not been characterized, however, due to the effects of other truncation mutations downstream of T1200 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
T1350M	missense	unknown	ATM T1350M does not lie within any known functional domains of the Atm protein (UniProt.org). T1350M has been identified in sequencing studies (PMID: 30181556, PMID: 28119368), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
T1743I	missense	loss of function	ATM T1743I does not lie within any known functional domains of the Atm protein (UniProt.org). T1743I results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
T1756I	missense	unknown	ATM T1756I does not lie within any known functional domains of the Atm protein (UniProt.org). T1756I has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
T1880R	missense	unknown	ATM T1880R does not lie within any known functional domains of the Atm protein (UniProt.org). T1880R has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
T2031I	missense	no effect - predicted	ATM T2031I lies within the FAT domain of the Atm protein (UniProt.org). T2031I restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to have no effect on Atm protein function.
T2333fs	frameshift	loss of function - predicted	ATM T2333fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2333 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). T2333fs has not been characterized, however, due to the effects of other truncation mutations downstream of T2333 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
T2333Nfs*40	frameshift	loss of function - predicted	ATM T2333Nfs40 indicates a shift in the reading frame starting at amino acid 2333 and terminating 40 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). T2333Nfs40 has not been characterized, however, due to the effects of other truncation mutations downstream of T2333 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
T2396S	missense	unknown	ATM T2396S lies within the FAT domain of the Atm protein (UniProt.org). T2396S has been identified in the scientific literature (PMID: 19404735, PMID: 29036293, PMID: 25980754), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
T2666A	missense	loss of function	ATM T2666A does not lie within any known functional domains of the Atm protein (UniProt.org). T2666A results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
T2743M	missense	unknown	ATM T2743M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2743M has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
T2902fs	frameshift	loss of function - predicted	ATM T2902fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2902 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). T2902fs has not been characterized, however, due to the effects of other truncation mutations downstream of T2902 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
T2934I	missense	unknown	ATM T2934I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2934I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
T2947S	missense	loss of function - predicted	ATM T2947S (also referred to as T2946S) lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). T2947S results in defective kinase activity in patient samples (PMID: 16014569), and therefore, is predicted to lead to a loss of Atm protein function.
T593del	deletion	unknown	ATM T593del results in the deletion of an amino acid in the Atm protein (UniProt.org). T593del has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
T86I	missense	unknown	ATM T86I does not lie within any known functional domains of the Atm protein (UniProt.org). T86I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
V1268*	nonsense	loss of function - predicted	ATM V1268* results in a premature truncation of the Atm protein at amino acid 1268 of 3056 (UniProt.org). V1268* has not been characterized, however, due to the effects of other truncation mutations downstream of V1268 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V1268fs	frameshift	loss of function - predicted	ATM V1268fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1268 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V1268fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1268 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V1538fs	frameshift	loss of function - predicted	ATM V1538fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1538 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V1538fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1538 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V1570A	missense	unknown	ATM V1570A does not lie within any known functional domains of the Atm protein (UniProt.org). V1570A is associated with retention of Atm expression in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
V1671D	missense	unknown	ATM V1671D does not lie within any known functional domains of the Atm protein (UniProt.org). V1671D has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
V1841I	missense	no effect - predicted	ATM V1841I does not lie within any known functional domains of the Atm protein (UniProt.org). V1841I restores viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to have no effect on Atm protein function.
V1941L	missense	loss of function	ATM V1941L lies within the FAT domain of the Atm protein (UniProt.org). V1941L results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and failure to induce apoptosis in response to irradiation in culture (PMID: 19431188, PMID: 16014569).
V2119fs	frameshift	loss of function - predicted	ATM V2119fs results in a change in the amino acid sequence of the Atm protein beginning at 2119 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V2119fs has not been characterized, however, due to the effects of other truncation mutations downstream of V2119 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V2288fs	frameshift	loss of function - predicted	ATM V2288fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2288 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V2288fs has not been characterized, however, due to the effects of other truncation mutations downstream of V2288 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V2424G	missense	loss of function	ATM V2424G lies within the FAT domain of the Atm protein (UniProt.org). V2424G results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and impaired G2/M checkpoint in response to irradiation in culture (PMID: 19431188, PMID: 11830610).
V2439A	missense	unknown	ATM V2439A lies within the FAT domain of the Atm protein (UniProt.org). V2439A has been identified in sequencing studies (PMID: 12810666), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
V2664del	deletion	loss of function	ATM V2664del results in the deletion of an amino acid of the Atm protein at amino acid 2664 (UniProt.org). V2664del (reported as V2662del) confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
V2716A	missense	loss of function	ATM V2716A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2716A confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
V2727A	missense	unknown	ATM V2727A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2727A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
V2731G	missense	unknown	ATM V2731G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2731G has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
V278fs	frameshift	loss of function - predicted	ATM V278fs results in a change in the amino acid sequence of the Atm protein beginning at aa 278 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V278fs has not been characterized, however, due to the effects of other truncation mutations downstream of V278 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V2873I	missense	unknown	ATM V2873I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2873I is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
V2951F	missense	unknown	ATM V2951F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2951F has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
V410A	missense	unknown	ATM V410A does not lie within any known functional domains of the Atm protein (UniProt.org). V410A has been identified in the scientific literature (PMID: 29906251, PMID: 25148578, PMID: 14695997), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
V519I	missense	loss of function - predicted	ATM V519I does not lie within any known functional domains of the Atm protein (UniProt.org). V519I results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function.
V566Ifs*6	frameshift	loss of function - predicted	ATM V566Ifs6 indicates a shift in the reading frame starting at amino acid 566 and terminating 6 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). V566Ifs6 has not been characterized, however, due to the effects of other truncation mutations downstream of V566 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V60F	missense	unknown	ATM V60F does not lie within any known functional domains of the Atm protein (UniProt.org). V60F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
V630M	missense	unknown	ATM V630M does not lie within any known functional domains of the Atm protein (UniProt.org). V630M has been identified in sequencing studies (PMID: 27468087), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
W1058*	nonsense	loss of function - predicted	ATM W1058* results in a premature truncation of the Atm protein at amino acid 1058 of 3056 (UniProt.org). W1058* has not been characterized, however, due to the effects of other truncation mutations downstream of W1058 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
W2104*	nonsense	loss of function - predicted	ATM W2104* results in a premature truncation of the Atm protein at amino acid 2104 of 3056 (UniProt.org). W2104* has not been characterized, however, due to the effects of other truncation mutations downstream of W2104 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
W2109*	nonsense	loss of function - predicted	ATM W2109* results in a premature truncation of the Atm protein at amino acid 2109 of 3056 (UniProt.org).W2109* has not been characterized, however, due to the effects of other truncation mutations downstream of W2109 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
W2300*	nonsense	loss of function - predicted	ATM W2300* results in a premature truncation of the Atm protein at amino acid 1627 of 3056 (UniProt.org). W2300* has not been characterized, however, due to the effects of other truncation mutations downstream of W2300 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
W2845C	missense	unknown	ATM W2845C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). W2845C has been identified in sequencing studies (PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
W3052C	missense	unknown	ATM W3052C lies within the FATC domain of the Atm protein (UniProt.org). W3052C has been identified in sequencing studies (PMID: 26837699), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
W412*	nonsense	loss of function - predicted	ATM W412* results in a premature truncation of the Atm protein at amino acid 412 of 3056 (UniProt.org). W412* has not been characterized, however, due to the effects of other truncation mutations downstream of W412 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
W412C	missense	unknown	ATM W412C does not lie within any known functional domains of the Atm protein (UniProt.org). W412C results in splicing similar to wild type in cell culture (PMID: 24586880), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
W524*	nonsense	loss of function - predicted	ATM W524* results in a premature truncation of the Atm protein at amino acid 524 of 3056 (UniProt.org). W524* has not been characterized, however, due to the effects of other truncation mutations downstream of W524 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
W57*	nonsense	loss of function - predicted	ATM W57* results in a premature truncation of the Atm protein at amino acid 57 of 3056 (UniProt.org). W57* has not been characterized, however, due to the effects of other truncation mutations downstream of W57 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
wild-type	none	no effect	Wild-type ATM indicates that no mutation has been detected within the ATM gene.
Y1124F	missense	unknown	ATM Y1124F does not lie within any known functional domains of the Atm protein (UniProt.org). Y1124F has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Y1229*	nonsense	loss of function - predicted	ATM Y1229* results in a premature truncation of the Atm protein at amino acid 1229 of 3056 (UniProt.org). Y1229* has not been characterized, however, due to the effects of other truncation mutations downstream of Y1229 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Y1442*	nonsense	loss of function - predicted	ATM Y1442* results in a premature truncation of the Atm protein at amino acid 1442 of 3056 (UniProt.org). Y1442* has not been characterized, however, due to the effects of other truncation mutations downstream of Y1442 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Y1961C	missense	loss of function	ATM Y1961C lies within the FAT domain of the Atm protein (UniProt.org). Y1961C results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
Y2019C	missense	loss of function - predicted	ATM Y2019C lies within the FAT domain of the Atm protein (UniProt.org). Y2019C results in a loss of phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
Y2371*	nonsense	loss of function - predicted	ATM Y2371* results in a premature truncation of the Atm protein at amino acid 2371 of 3056 (UniProt.org). Y2371* has not been characterized, however, due to the effects of other truncation mutations downstream of Y2371 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Y2398C	missense	unknown	ATM Y2398C lies within the FAT domain of the Atm protein (UniProt.org). Y2398C has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Y2437C	missense	unknown	ATM Y2437C lies within the FAT domain of the Atm protein (UniProt.org). Y2437C has been identified in sequencing studies (PMID: 10939806, PMID: 31552911), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Y2437S	missense	unknown	ATM Y2437S lies within the FAT domain of the Atm protein (UniProt.org). Y2437S has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Y2755C	missense	unknown	ATM Y2755C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2755C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Y2954C	missense	unknown	ATM Y2954C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2954C has been identified in sequencing studies (PMID: 22634756, PMID: 23415222, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Y54*	nonsense	loss of function - predicted	ATM Y54* results in a premature truncation of the Atm protein at amino acid 54 of 3056 (UniProt.org). Y54* has not been characterized, however, due to the effects of other truncation mutations downstream of Y54 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.

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