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ATM A2622V - Gene Variant Detail

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Gene ATM
Variant A2622V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM A2622V does not lie within any known functional domains of the Atm protein (UniProt.org). ATM A2622V does not demonstrate defects in protein stability, kinase activity, or radiation-induced nuclear foci formation in cultured cells when the splicing defect resulting from the corresponding DNA change is corrected (PMID: 17389389, PMID: 37438524), however, the corresponding DNA change (c.7865C>T) results in altered splicing of ATM leading to a deletion of 64 nucleotides (PMID: 14695534, PMID: 37438524) and loss of Atm expression in patient cells (PMID: 10330348), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM A2622V

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Transcript NM_000051.4
gDNA chr11:g.108332838C>T
cDNA c.7865C>T
Protein p.A2622V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.2 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM A2622V prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) improved progression-free survival (7.4 vs 3.6 mo, HR 0.34, p<0.001), objective response rate (33% vs 2%, OR 20.86, p<0.001), and median overall survival (18.5 vs 15.1 mo, HR 0.64, p=0.02) over control in metastatic prostate cancer patients harboring inactivating BRCA/ATM mutations as detected by approved assays, including ATM A2622V, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). detail... detail... 32343890