ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2051G>C (p.Cys684Ser)

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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 RCV002421830 SCV002724462 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-16 criteria provided, single submitter clinical testing The p.C684S variant (also known as c.2051G>C), located in coding exon 13 of the BRIP1 gene, results from a G to C substitution at nucleotide position 2051. The cysteine at codon 684 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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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