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Gene ATM
Variant I1453fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM I1453fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1453 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I1453fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1453 (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 I1453fs

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Transcript NM_000051.4
gDNA chr11:g.(108289721_108289722)
cDNA c.(4357_4356)
Protein p.I1453fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017792.2 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108289721_108289722) c.(4357_4356) p.I1453fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM I1453fs tongue squamous cell carcinoma predicted - sensitive Radiotherapy Case Reports/Case Series Actionable In a retrospective analysis, radiotherapy treatment resulted in a complete metabolic response lasting at least 34 months in a patient with squamous cell carcinoma of the tongue, and the patient was found to harbor ATM I1453fs (PMID: 28055970). 28055970