ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.487A>G (p.Ser163Gly)

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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 RCV004522223 SCV005027546 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-27 criteria provided, single submitter clinical testing The p.S163G variant (also known as c.487A>G), located in coding exon 5 of the BRCA2 gene, results from an A to G substitution at nucleotide position 487. The serine at codon 163 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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