ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9322G>T (p.Asp3108Tyr)

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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 RCV002371615 SCV002687368 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-11 criteria provided, single submitter clinical testing The p.D3108Y variant (also known as c.9322G>T), located in coding exon 24 of the BRCA2 gene, results from a G to T substitution at nucleotide position 9322. The aspartic acid at codon 3108 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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