BRIP1 T997Rfs*61
Gene Variant Detail

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Gene BRIP1
Variant T997Rfs*61
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 T997Rfs*61 indicates a shift in the reading frame starting at amino acid 997 and terminating 61 residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). T997Rfs*61 has not been characterized, however, due to the effects of other truncation mutations downstream of T997 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 T997fs BRIP1 T997Rfs*61

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Transcript NM_032043.3
gDNA chr17:g.61684063_61684066delTGTT
cDNA c.2990_2993delCAAA
Protein p.T997Rfs*61
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_032043.3 chr17:g.61684063_61684066delTGTT c.2990_2993delCAAA p.T997Rfs*61 RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61684063_61684066delTGTT c.2990_2993delCAAA p.T997Rfs*61 RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61684063_61684066delTGTT c.2990_2993delCAAA p.T997Rfs*61 RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61684063_61684066delTGTT c.2990_2993delCAAA p.T997Rfs*61 RefSeq GRCh38/hg38

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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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRIP1 T997Rfs*61 pancreatic adenocarcinoma predicted - sensitive Olaparib Case Reports/Case Series Actionable In a Phase II trial, treatment with Lynparza (olaparib) resulted in a clinical benefit rate of 62.5% in advanced solid tumor patients harboring BRIP1 mutations, including a partial response in a patient with pancreatic adenocarcinoma harboring BRIP1 T997Rfs*61 (reported as c.2990_2993del) (PMID: 42105598). 42105598