ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8428A>C (p.Ser2810Arg)

dbSNP: rs80359089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257387 SCV002531945 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-01 criteria provided, single submitter curation
Ambry Genetics RCV002257387 SCV004052553 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-10 criteria provided, single submitter clinical testing The p.S2810R variant (also known as c.8428A>C), located in coding exon 18 of the BRCA2 gene, results from an A to C substitution at nucleotide position 8428. The serine at codon 2810 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113929 SCV000147360 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-12-17 no assertion criteria provided clinical testing

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