ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2877A>C (p.Arg959Ser)

dbSNP: rs587782743
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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 RCV000132248 SCV000187331 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing The p.R959S variant (also known as c.2877A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 2877. The arginine at codon 959 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000132248 SCV003849290 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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