Gene Variant Detail

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Gene ATM
Variant S214fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S214fs results in a change in the amino acid sequence of the Atm protein beginning at aa 214 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S214fs has not been characterized however, based on the effects of other truncation mutations downstream of S214 (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 S214fs

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Transcript NM_000051.3
gDNA chr11:g.(108244095_108244096)
cDNA c.(640_639)
Protein p.S214fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017792.2 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108244095_108244096) c.(640_639) p.S214fs RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM S214fs colorectal cancer predicted - sensitive Berzosertib + Irinotecan Case Reports/Case Series Actionable In a Phase I trial, the combination of Berzosertib (VX-970) and Camptosar (irinotecan) was tolerated in patients with advanced solid tumors, and resulted in a 26% tumor decrease lasting 7.5 months in a colorectal cancer patient harboring ATM S214fs (J Clin Oncol 40, 2022 (suppl 16; abstr 3012); NCT02595931). detail...