ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2686A>T (p.Ser896Cys)

dbSNP: rs80357188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568547 SCV000668465 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-09 criteria provided, single submitter clinical testing The p.S896C variant (also known as c.2686A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 2686. The serine at codon 896 is replaced by cysteine, 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 RCV000568547 SCV003849427 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).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111917 SCV000144513 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2003-12-23 no assertion criteria provided clinical testing

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