ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1562C>T (p.Ser521Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002405440 SCV002708730 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-25 criteria provided, single submitter clinical testing The p.S521L variant (also known as c.1562C>T), located in coding exon 9 of the BRCA2 gene, results from a C to T substitution at nucleotide position 1562. The serine at codon 521 is replaced by leucine, an amino acid with dissimilar properties. This variant was reported in 0/60,466 breast cancer cases and in 1/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV002405440 SCV003851487 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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