ATM R3008H
Gene Variant Detail

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Gene ATM
Variant R3008H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R3008H does not lie within any known functional domains of the Atm protein (UniProt.org). R3008H demonstrates kinase activity in an in vitro assay and recruitment to DNA damage sites similar to wild-type Atm protein, but results in 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), 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 R3008H

ATM mutant ATM R3008X ATM R3008H

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Transcript NM_000051.4
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
XM_006718843.5 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_000051.4 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_017017790.2 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_001351834.2 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
NM_000051.3 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_047426975.1 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_047426976.1 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_005271562 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_017017789 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
XM_005271562.5 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_017017790.3 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
XM_017017790 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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
ATM R3008H prostate cancer predicted - sensitive RP-3500 Case Reports/Case Series Actionable In a Phase I/II trial (TRESR), RP-3500 treatment resulted in a 29% tumor reduction in a castration-resistant prostate cancer patient harboring ATM R3008H, who remained on treatment for more than 61 weeks (PMID: 37277454; NCT04497116). 37277454
ATM R3008H prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) improved progression-free survival (7.4 vs 3.6 mo, HR 0.34, p<0.001), objective response rate (33% vs 2%, OR 20.86, p<0.001), and median overall survival (18.5 vs 15.1 mo, HR 0.64, p=0.02) over control in metastatic prostate cancer patients harboring inactivating BRCA/ATM mutations as detected by approved assays, including ATM R3008H, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). 32343890 detail... detail...