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Gene | ATM |
Variant | S333F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM S333F does not lie within any known functional domains of the Atm protein (UniProt.org). S333F confers a loss of function to the Atm protein as demonstrated by reduced phosphorylation of Atm target proteins Chk2 and H2AX and decreased HDR activity in cultured cells (PMID: 35354106). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM S333F |
Transcript | NM_000051.4 |
gDNA | chr11:g.108247060C>T |
cDNA | c.998C>T |
Protein | p.S333F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542843.3 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542844.3 | chr11:g.108253957C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542844 | chr11:g.108253957C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542844.4 | chr11:g.108253957C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108247060C>T | c.998C>T | p.S333F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM S333F | 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 S333F, with a progression-free survival of 4.2 months and an overall survival of 4.2 months (PMID: 29906251; NCT01638546). | 29906251 |