ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2495G>C (p.Cys832Ser)

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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 RCV004602529 SCV005101049 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-25 criteria provided, single submitter clinical testing The p.C832S variant (also known as c.2495G>C), located in coding exon 17 of the BRIP1 gene, results from a G to C substitution at nucleotide position 2495. The cysteine at codon 832 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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