ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6652G>T (p.Asp2218Tyr)

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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 RCV004602306 SCV005102077 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-15 criteria provided, single submitter clinical testing The p.D2218Y variant (also known as c.6652G>T), located in coding exon 10 of the BRCA2 gene, results from a G to T substitution at nucleotide position 6652. The aspartic acid at codon 2218 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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