Gene Variant Detail

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Gene ATM
Variant R2691C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and via structural modeling, demonstrates potential for impaired kinase activity of Atm (PMID: 21993670), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R2691C

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Transcript NM_000051.3
gDNA chr11:g.108335029C>T
cDNA c.8071C>T
Protein p.R2691C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_017017789 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_005271562 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_011542840 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108335929_108335931delAGGinsTGT c.8071_8073delAGGinsTGT p.R2691C RefSeq GRCh38/hg38
XM_005271561 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_011542842 chr11:g.108335929_108335931delAGGinsTGT c.8071_8073delAGGinsTGT p.R2691C RefSeq GRCh38/hg38
XM_011542843 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_006718843 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
NM_000051 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108335029C>T c.8071C>T p.R2691C RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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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 R2691C neuroblastoma no benefit Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment of transformed neuroblastoma cells expressing ATM R2691C resulted in similar cell viability levels to wild-type Atm in culture (PMID: 29059438). 29059438