ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6970C>T (p.His2324Tyr)

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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 RCV004519841 SCV005029271 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-07 criteria provided, single submitter clinical testing The p.H2324Y variant (also known as c.6970C>T), located in coding exon 12 of the BRCA2 gene, results from a C to T substitution at nucleotide position 6970. The histidine at codon 2324 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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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