Gene Variant Detail

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Gene ATM
Variant G2772R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ATM G2772R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2772R results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM G2772R

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Transcript NM_000051.3
gDNA chr11:g.108343267G>A
cDNA c.8314G>A
Protein p.G2772R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.3 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108343267G>A c.8314G>A p.G2772R RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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
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 Advanced Solid Tumor predicted - sensitive Olaparib Phase II Actionable In a Phase II trial (TAPUR), Lynparza (olaparib) treatment resulted in an objective response rate of 8% and a disease control rate of 25% (9/36, 1 complete response, 2 partial responses, 6 stable disease at 16+ weeks) in patients with advanced solid tumors harboring ATM mutations (Cancer Res 2022;82(12_Suppl):Abstract nr CT110; NCT02693535). detail...