ATM Y2470D
Gene Variant Detail

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Gene ATM
Variant Y2470D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM Y2470D lies within the FAT domain of the Atm protein (UniProt.org). Y2470D results in decreased Atm expression in cultured cells (PMID: 9887333), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM Y2470D

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Transcript NM_000051.4
gDNA chr11:g.108330314T>G
cDNA c.7408T>G
Protein p.Y2470D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.3 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108330314T>G c.7408T>G p.Y2470D 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 Y2470D 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 Y2470D, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). detail... 32343890 detail...