ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4272T>C (p.Ser1424=)

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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 RCV003477119 SCV004219624 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in the somatic state in an individual with endometrial cancer (PMID: 23104009 (2012)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRCA2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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