Gene Variant Detail

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Gene ATM
Variant D1285G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM D1285G does not lie within any known functional domains of the Atm protein (UniProt.org). D1285G has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
Associated Drug Resistance

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Transcript NM_000051.3
gDNA chr11:g.108284334A>G
cDNA c.3854A>G
Protein p.D1285G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.2 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108284334A>G c.3854A>G p.D1285G RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM mutant mantle cell lymphoma predicted - sensitive Ibrutinib + Venetoclax Phase II Actionable In a Phase II trial (AIM), distinct molecular profiles were identified in mantle cell lymphoma patients responded to Imbruvica (ibrutinib) and Venclexta (venetoclax) combination therapy compared to those did not respond, with all patients harboring mutations in NSD2 (n=4), UBR5 (n=3), KMT2D (n=3), and 12 of 13 patients harboring mutations in ATM responded to the therapy, while SMARCA4 (n=4), CCND1 (n=2), and NOTCH1 (n=3) alterations were exclusively observed in nonresponders (PMID: 30455436; NCT02471391). 30455436
ATM mutant prostate cancer sensitive Olaparib Phase II Actionable In a Phase II clinical trial, 80% (4/5) of metastatic castration-resistant prostate cancer patients with ATM truncation mutations demonstrated response to Lynparza (olaparib) treatment (Cancer Res August 1, 2015 75:CT322). detail...
ATM mutant prostate cancer not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
ATM mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in 4 patients with metastatic breast cancer harboring only germline mutations in ATM (PMID: 33119476; NCT03344965). 33119476
Molecular Profile Protein Effect Treatment Approaches
ATM D1285G unknown