Gene Variant Detail

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Gene ATM
Variant R3008H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM R3008H does not lie within any known functional domains of the Atm protein (UniProt.org). R3008H results in kinase activity, and recruitment to DNA damage similar to wild-type Atm protein, but decreased Atm activation, altered irradiation-induced cell cycle checkpoint, partial loss of tumor suppressor function (PMID: 33239428), and failure to induce Tp53 target gene expression after DNA damage in patient-derived cells (PMID: 23585524).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R3008H

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Transcript NM_000051.3
gDNA chr11:g.108365360G>A
cDNA c.9023G>A
Protein p.R3008H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_000051 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271562 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017789 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017790 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_006718843 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271561 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_011542840 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM R3008H esophagus small cell carcinoma predicted - sensitive Etoposide + Olaparib Case Reports/Case Series Actionable In a clinical case study, the combination of Lynparza (olaparib) and Vepesid (etoposide) resulted in a partial response and 5.9 months of progression-free survival in a patient with small cell esophageal carcinoma harboring ATM R3008H (PMID: 35480123). 35480123