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Gene | ATM |
Variant | V410A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM V410A does not lie within any known functional domains of the Atm protein (UniProt.org). V410A has been identified in the scientific literature (PMID: 29906251, PMID: 25148578, PMID: 14695997), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM V410A |
Transcript | NM_000051.4 |
gDNA | chr11:g.108249096T>C |
cDNA | c.1229T>C |
Protein | p.V410A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843.5 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108249096T>C | c.1229T>C | p.V410A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM V410A | lung small cell carcinoma | predicted - sensitive | Temozolomide + Veliparib | Case Reports/Case Series | Actionable | In a Phase II trial, Temodar (temozolomide) and Veliparib (ABT-888) combination treatment resulted stable disease in a patient with small cell lung cancer harboring ATM V410A, with a progression-free survival of 6.3 months and an overall survival of 6.3 months (PMID: 29906251; NCT01638546). | 29906251 |