ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9919_9932del (p.Lys3307fs)

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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 RCV004999108 SCV005625364 uncertain significance not provided 2024-07-02 criteria provided, single submitter clinical testing The BRCA2 c.9919_9932del (p.Lys3307Hisfs*15) variant alters the translational reading frame of the BRCA2 mRNA and is predicted to cause the premature termination of BRCA2 protein synthesis. However, this variant is located in the terminal exon of BRCA2 and the effect of the predicted truncation on BRCA2 protein function is uncertain. This variant has not been reported in individuals with BRCA2-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant.

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