ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9430T>C (p.Ser3144Pro)

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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 RCV002374003 SCV002687164 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-25 criteria provided, single submitter clinical testing The p.S3144P variant (also known as c.9430T>C), located in coding exon 24 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9430. The serine at codon 3144 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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