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ATM I1294Nfs*8 - Gene Variant Detail

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Gene ATM
Variant I1294Nfs*8
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM I1294Nfs*8 indicates a shift in the reading frame starting at amino acid 1294 and terminating 8 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). I1294Nfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of I1294 (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 I1294Nfs*8

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Transcript NM_000051.4
gDNA chr11:g.108284360dupA
cDNA c.3880dupA
Protein p.I1294Nfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047426976.1 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108284360dupA c.3880dupA p.I1294Nfs*8 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM I1294Nfs*8 ATM E2977Rfs*2 colorectal adenocarcinoma predicted - sensitive Irinotecan + Olaparib Case Reports/Case Series Actionable In a clinical case study, Lynparza (olaparib) and Camptosar (irinotecan) combination treatment resulted in decreased tumor markers and stable disease in the primary and metastatic tumors in a heavily pretreated patient with metastatic colorectal adenocarcinoma harboring ATM E2977Rfs*2, ATM I1294Nfs*8, and KRAS G13D, lasting at least 4 months (PMID: 35004311). 35004311