ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7965A>T (p.Gln2655His)

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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 RCV003302155 SCV004005440 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-27 criteria provided, single submitter clinical testing The p.Q2655H variant (also known as c.7965A>T), located in coding exon 16 of the BRCA2 gene, results from an A to T substitution at nucleotide position 7965. The glutamine at codon 2655 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly 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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