ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9860G>A (p.Cys3287Tyr)

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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 RCV003182496 SCV003855486 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing The p.C3287Y variant (also known as c.9860G>A), located in coding exon 26 of the BRCA2 gene, results from a G to A substitution at nucleotide position 9860. The cysteine at codon 3287 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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