ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2545G>T (p.Val849Leu)

dbSNP: rs786202105
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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 RCV000164752 SCV000215426 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-29 criteria provided, single submitter clinical testing The p.V849L variant (also known as c.2545G>T), located in coding exon 10 of the BRCA2 gene, results from a G to T substitution at nucleotide position 2545. The valine at codon 849 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824650 SCV002074170 uncertain significance not specified 2022-01-10 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000164752 SCV003848400 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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