ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) (rs1567769244)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000777099 SCV000912785 likely pathogenic Hereditary cancer-predisposing syndrome 2019-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777099 SCV001185510 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-21 criteria provided, single submitter clinical testing The p.V1714F variant (also known as c.5140G>T), located in coding exon 16 of the BRCA1 gene, results from a G to T substitution at nucleotide position 5140. One functional study found the nucleotide substitution is deleterious in a high throughput genome editing haploid cell survival assay (Findlay, GM Nature 2018 10;562(7726):217-222) The valine at codon 1714 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breast Center,Key Laboratory of Carcinogenesis and Translational Research RCV001254332 SCV001430316 likely pathogenic Hereditary breast and ovarian cancer syndrome 2020-05-01 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001072335 SCV001237696 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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