ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257delG

dbSNP: rs1555289496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637473 SCV000758933 pathogenic Hereditary breast ovarian cancer syndrome 2017-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly3086Aspfs*18) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237969 SCV002010292 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing

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