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Gene | ATM |
Variant | T2333fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM T2333fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2333 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). T2333fs has not been characterized, however, due to the effects of other truncation mutations downstream of T2333 (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 T2333fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108327665_108327666) |
cDNA | c.(6997_6996) |
Protein | p.T2333fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005271562.6 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108327665_108327666) | c.(6997_6996) | p.T2333fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM T2333fs ATM neg | Her2-receptor negative breast cancer | predicted - sensitive | Elimusertib | Case Reports/Case Series | Actionable | In a Phase I trial, Elimusertib (BAY1895344) treatment resulted in a partial response with a 54% decrease in tumor size in a patient with heavily treated, hormone receptor-positive, ERBB2 (HER2)-negative breast cancer harboring ATM T2333fs and ATM protein loss, who remained on treatment for 349 days (PMID: 32988960; NCT03188965). | 32988960 |