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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 |
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 |
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... |