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Gene ATM
Variant S1599*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions 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.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S1599*

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Transcript NM_000051.4
gDNA chr11:g.108294946C>A
cDNA c.4796C>A
Protein p.S1599*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.4 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108294946C>A c.4796C>A p.S1599* RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM S1599* appendix cancer predicted - sensitive Talazoparib Case Reports/Case Series Actionable In a Phase II trial, Talzenna (talazoparib) treatment resulted in a clinical benefit rate (CBR) of 22.8% (18/79, 1 complete and 7 partial responses, 10 with stable disease >/=24 weeks) in patients with advanced solid tumors harboring mutations in DNA damage repair genes, including a partial response lasting 12 weeks in an appendiceal cancer patient harboring ATM S1599* (PMID: 39085400; NCT02286687). 39085400