Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | ATM |
Variant | I2629fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM I2629fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2629 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I2629fs has not been characterized, however, due to the effects of other truncation mutations downstream of I2629 (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 I2629fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108332857_108332858) |
cDNA | c.(7885_7884) |
Protein | p.I2629fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005271562.5 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108332857_108332858) | c.(7885_7884) | p.I2629fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM I2629fs ATM neg | endometrial clear cell adenocarcinoma | predicted - sensitive | Elimusertib | Case Reports/Case Series | Actionable | In a Phase I trial, Elimusertib (BAY1895344) treatment resulted in a partial response with a 53% decrease in tumor size in a patient with clear cell endometrial cancer harboring ATM I2629fs with ATM protein loss, treatment was ongoing at 433 days (PMID: 32988960; NCT03188965). | 32988960 |