ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3995A>T (p.His1332Leu)

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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 RCV004952427 SCV005550100 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-01 criteria provided, single submitter clinical testing The p.H1332L variant (also known as c.3995A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 3995. The histidine at codon 1332 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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