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ATM R3008C - Gene Variant Detail

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Gene ATM
Variant R3008C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM R3008C does not lie within any known functional domains of the Atm protein (UniProt.org). R3008C retains foci formation after DNA damage (PMID: 19431188), but results in decreased phosphorylation of Atm and downstream targets (PMID: 18573109), loss of kinase activity and defective G2/M checkpoint after DNA damage in culture (PMID: 19431188), and failure to induce Tp53 target gene expression in patient-derived cells (PMID: 23585524).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R3008C

ATM mutant ATM R3008X ATM R3008C

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Transcript NM_000051.4
gDNA chr11:g.108365359C>T
cDNA c.9022C>T
Protein p.R3008C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_005271561 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_005271562 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_017017790 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
NM_000051 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_017017789 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_011542840 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38
XM_006718843 chr11:g.108365359C>T c.9022C>T p.R3008C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM R3008C pancreatic ductal adenocarcinoma no benefit Fluorouracil + Oxaliplatin + Veliparib Case Reports/Case Series Actionable In a Phase I/II trial, Veliparib (ABT-888) in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) did not result in a clinical response in a patient with metastatic pancreatic ductal adenocarcinoma harboring ATM R3008C (PMID: 32669374; NCT01489865). 32669374
ATM R3008C 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 R3008C, HR was 1.04 in ATM-mutant group (PMID: 32343890; NCT02987543). 32343890 detail... detail...