ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2968A>C (p.Ser990Arg)

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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 RCV002442054 SCV002749163 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-09 criteria provided, single submitter clinical testing The p.S990R variant (also known as c.2968A>C), located in coding exon 19 of the BRIP1 gene, results from an A to C substitution at nucleotide position 2968. The serine at codon 990 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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