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| Gene | ATM |
| Variant | S1905Ifs*25 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ATM S1905Ifs*25 indicates a shift in the reading frame starting at amino acid 1905 and terminating 25 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1905Ifs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of S1905 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM inact mut ATM S1905Ifs*25 |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108307934dupA |
| cDNA | c.5712dupA |
| Protein | p.S1905Ifs*25 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005271562.5 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| NM_001351834.1 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_011542840.4 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_011542843.3 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_047426975.1 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_006718843.5 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| NM_000051.4 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_005271562.6 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_006718843.4 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| NM_000051.3 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_011542843.2 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_017017791.1 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_047426976.1 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_017017790.3 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_017017789.2 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_017017790.2 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| XM_011542840.3 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| NM_001351834.2 | chr11:g.108307934dupA | c.5712dupA | p.S1905Ifs*25 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ATM S1905Ifs*25 | gallbladder carcinoma | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, treatment with Lynparza (olaparib) resulted in improved clinical symptoms and progression-free survival of 13 months in a patient with gallbladder carcinoma harboring ATM S1905Ifs*25 (PMID: 32045060). | 32045060 |