ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1535C>G (p.Pro512Arg)

dbSNP: rs1184226464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237577 SCV002010735 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158935 SCV003851463 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).
Ambry Genetics RCV003158935 SCV005102181 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-22 criteria provided, single submitter clinical testing The p.P512R variant (also known as c.1535C>G), located in coding exon 9 of the BRCA2 gene, results from a C to G substitution at nucleotide position 1535. The proline at codon 512 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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