ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.947G>A (p.Ser316Asn)

dbSNP: rs1465372282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509766 SCV000607892 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-20 criteria provided, single submitter clinical testing The p.S316N variant (also known as c.947G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 947. The serine at codon 316 is replaced by asparagine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758854 SCV000887741 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing
Molecular Endocrinology Laboratory, Christian Medical College RCV001788270 SCV002030311 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000509766 SCV003846274 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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