ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2842T>C (p.Cys948Arg)

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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 RCV004952558 SCV005552975 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-15 criteria provided, single submitter clinical testing The p.C948R variant (also known as c.2842T>C), located in coding exon 18 of the BRIP1 gene, results from a T to C substitution at nucleotide position 2842. The cysteine at codon 948 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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