ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2018_2040del (p.Asn673fs)

dbSNP: rs2137482587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982593 SCV002226123 pathogenic Hereditary breast ovarian cancer syndrome 2021-04-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn673Serfs*7) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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