ATM G1676fs - Gene Variant Detail

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Gene ATM
Variant G1676fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM G1676fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1676 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). G1676fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1676 (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 G1676fs

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Transcript NM_000051.4
gDNA chr11:g.(108299733_108299734)
cDNA c.(5026_5025)
Protein p.G1676fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.4 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108299733_108299734) c.(5026_5025) p.G1676fs 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 )
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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 G1676fs cholangiocarcinoma predicted - sensitive Talazoparib Case Reports/Case Series Actionable In a Phase II trial, Talzenna (talazoparib) treatment resulted in a clinical benefit rate (CBR) of 22.8% (18/79, 1 complete and 7 partial responses, 10 with stable disease >/=24 weeks) in patients with advanced solid tumors harboring mutations in DNA damage repair genes, including a partial response lasting 16 weeks in a cholangiocarcinoma cancer patient harboring ATM G1676fs (PMID: 39085400; NCT02286687). 39085400