ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3340C>G (p.Leu1114Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002326593 SCV002605635 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter clinical testing The p.L1114V variant (also known as c.3340C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 3340. The leucine at codon 1114 is replaced by valine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV002326593 SCV003851877 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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