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Gene | ATM |
Variant | R1898* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM R1898* results in a premature truncation of the Atm protein at amino acid 1898 of 3056 (UniProt.org). R1898* has not been characterized, however, due to the effects of other truncation mutations downstream of R1898 (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 R1898* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108307914C>T |
cDNA | c.5692C>T |
Protein | p.R1898* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005271562.5 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108307914C>T | c.5692C>T | p.R1898* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM R1898* | colon cancer | predicted - sensitive | Radiotherapy | Case Reports/Case Series | Actionable | In a retrospective analysis, radiotherapy treatment resulted in 3.9 months of local disease control and no in-field recurrence in a patient with colon cancer harboring ATM R1898* (PMID: 28055970). | 28055970 |