ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly)

dbSNP: rs1247437511
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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 RCV000567175 SCV000668496 likely pathogenic Hereditary cancer-predisposing syndrome 2021-10-12 criteria provided, single submitter clinical testing The p.V1719G variant (also known as c.5156T>G), located in coding exon 17 of the BRCA1 gene, results from a T to G substitution at nucleotide position 5156. The valine at codon 1719 is replaced by glycine, an amino acid with dissimilar properties. One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Brotman Baty Institute, University of Washington RCV001076113 SCV001241804 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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