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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 has been identified in the scientific literature (PMID: 38060977, PMID: 38201484, PMID: 35777164), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM Y2470D |
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_011542840.4 | chr11:g.108330314T>G | c.7408T>G | p.Y2470D | RefSeq | GRCh38/hg38 |
XM_011542843.3 | 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 |
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 |
NM_000051.4 | 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 |
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... |