ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1532C>T (p.Ser511Leu)

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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 RCV004952375 SCV005548629 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-19 criteria provided, single submitter clinical testing The p.S511L variant (also known as c.1532C>T), located in coding exon 9 of the BRCA2 gene, results from a C to T substitution at nucleotide position 1532. The serine at codon 511 is replaced by leucine, an amino acid with 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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