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Gene ATM
Variant D2016G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM D2016G lies within the FAT domain of the Atm protein (UniProt.org). D2016G confers a loss of function to the Atm protein as demonstrated by increased chromosomal breaks and reduced DNA repair following irradiation compared to wild-type Atm in patient cells (PMID: 33551102), reduced Atm protein expression, and increased radiosensitivity in cultured cells (PMID: 18634022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM D2016G

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Transcript NM_000051.4
gDNA chr11:g.108315863A>G
cDNA c.6047A>G
Protein p.D2016G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.2 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108315863A>G c.6047A>G p.D2016G RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM D2016G 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 D2016G, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). detail... 32343890 detail...