ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.*23A>C

gnomAD frequency: 0.00001  dbSNP: rs796333934
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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 RCV000508043 SCV000600450 uncertain significance not provided 2022-11-04 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.000032 (1/31406 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. To the best of our knowledge, the variant has not been reported in the published literature. Because it is located in a sequence resembling a polyadenylation signal, this variant may or may not affect mRNA stability and downstream processing (PMID: 29208711 (2018) and 29648582 (2018)). Based on the available information, we are unable to determine the clinical significance of this variant.

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