ClinVar Miner

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

dbSNP: rs1465372282
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Total submissions: 5
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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 2024-09-17 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, the in silico prediction for this alteration is inconclusive. 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).
Neuberg Centre For Genomic Medicine, NCGM RCV001788270 SCV005849021 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.947G>A (p.Ser316Asn) in the BRCA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0003%) in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance/ Likely Benign. However, no details are available for independent assessment. The amino acid Ser at position 316 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Ser316Asn in BRCA1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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