ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2052C>G (p.Cys684Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002421838 SCV002728953 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-11 criteria provided, single submitter clinical testing The p.C684W variant (also known as c.2052C>G), located in coding exon 13 of the BRIP1 gene, results from a C to G substitution at nucleotide position 2052. The cysteine at codon 684 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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