ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.990A>C (p.Lys330Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999107 SCV005625362 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing The BRCA2 c.990A>C (p.Lys330Asn) variant has not been reported in individuals with BRCA2-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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