ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8930A>G (p.Tyr2977Cys)

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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 RCV002376158 SCV002687416 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-08 criteria provided, single submitter clinical testing The p.Y2977C variant (also known as c.8930A>G), located in coding exon 21 of the BRCA2 gene, results from an A to G substitution at nucleotide position 8930. The tyrosine at codon 2977 is replaced by cysteine, 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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