ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9572G>C (p.Trp3191Ser)

dbSNP: rs397508063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284456 SCV001470262 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035523 SCV005032046 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-25 criteria provided, single submitter clinical testing The p.W3191S variant (also known as c.9572G>C), located in coding exon 25 of the BRCA2 gene, results from a G to C substitution at nucleotide position 9572. The tryptophan at codon 3191 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is not well 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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