ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3769C>G (p.Pro1257Ala)

dbSNP: rs1060502438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581880 SCV000688833 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800801 SCV002046289 uncertain significance not provided 2020-10-11 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000581880 SCV003846862 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 RCV000581880 SCV005026521 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-22 criteria provided, single submitter clinical testing The p.P1257A variant (also known as c.3769C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 3769. The proline at codon 1257 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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