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Gene ATM
Variant D2720H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM D2720H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2023).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM D2720H

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Transcript NM_000051.4
gDNA chr11:g.108335851G>C
cDNA c.8158G>C
Protein p.D2720H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.4 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_005271562 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_005271561 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_011542840 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
NM_000051 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_006718843 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_011542843 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_017017790 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_017017789 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108335851G>C c.8158G>C p.D2720H RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 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