ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9406C>G (p.Leu3136Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002373951 SCV002687130 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-27 criteria provided, single submitter clinical testing The p.L3136V variant (also known as c.9406C>G), located in coding exon 24 of the BRCA2 gene, results from a C to G substitution at nucleotide position 9406. The leucine at codon 3136 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002508359 SCV002817827 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 9634C>G; This variant is associated with the following publications: (PMID: 12228710)
Color Diagnostics, LLC DBA Color Health RCV002373951 SCV004362815 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-25 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 3136 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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