ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.837C>G (p.Cys279Trp)

dbSNP: rs587781421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129293 SCV000184054 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-14 criteria provided, single submitter clinical testing The p.C279W variant (also known as c.837C>G), located in coding exon 9 of the BRCA2 gene, results from a C to G substitution at nucleotide position 837. The cysteine at codon 279 is replaced by tryptophan, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000206739 SCV000260412 likely benign Hereditary breast ovarian cancer syndrome 2023-10-03 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000129293 SCV003848067 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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