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ATM Q1919P - Gene Variant Detail

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Gene ATM
Variant Q1919P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM Q1919P does not lie within any known functional domains of the Atm protein (UniProt.org). Q1919P has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM Q1919P

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Transcript NM_000051.4
gDNA chr11:g.108307978A>C
cDNA c.5756A>C
Protein p.Q1919P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.3 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108307978A>C c.5756A>C p.Q1919P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM mutant Advanced Solid Tumor conflicting 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...
ATM mutant Advanced Solid Tumor conflicting Olaparib Phase II Actionable In a Phase II trial, Lynparza (olaparib) treatment did not demonstrate clinical activity in patients with advanced solid tumors harboring ATM (n=13) or CHEK2 (n=14) mutations (Ann Oncol (2023) 34 (suppl_2): S242; NCT03967938). detail...
ATM mutant chronic lymphocytic leukemia/small lymphocytic lymphoma not applicable N/A Guideline Prognostic ATM mutations are associated with shorter time to first treatment, progression-free survival, time to next treatment, and overall survival with chemoimmunotherapy compared to wild-type ATM in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org). detail...
ATM mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing pancreatic 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
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 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 lung non-small cell carcinoma predicted - sensitive M1774 Preclinical - Cell line xenograft Actionable In a preclinical study, M1774 inhibited tumor growth in a cell line xenograft model of non-small cell lung cancer harboring an ATM mutation (PMID: 38407317). 38407317
ATM mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing ovarian cancer (NCCN.org). 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 not applicable N/A Guideline Risk Factor Germline ATM mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...