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Gene ATM
Variant V2288fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM V2288fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2288 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V2288fs has not been characterized, however, due to the effects of other truncation mutations downstream of V2288 (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 V2288fs

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Transcript NM_000051.4
gDNA chr11:g.(108326111_108326112)
cDNA c.(6862_6861)
Protein p.V2288fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.5 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108326111_108326112) c.(6862_6861) p.V2288fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM V2288fs prostate cancer predicted - sensitive Olaparib Case Reports/Case Series Actionable In a Phase II trial (TOPARP-A), Lynparza (olaparib) treatment resulted in a conversion in the circulating tumor-cell count, a 29% decrease in PSA level, and radiologic stable disease in a patient with metastatic castration-resistant prostate cancer harboring ATM V2288fs (PMID: 26510020; NCT01682772). 26510020