ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7847C>A (p.Ser2616Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1174303167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567599 SCV000661235 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-19 criteria provided, single submitter clinical testing The p.S2616Y variant (also known as c.7847C>A), located in coding exon 16 of the BRCA2 gene, results from a C to A substitution at nucleotide position 7847. The serine at codon 2616 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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