ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8954-8_9136del

dbSNP: rs1555288431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000493539 SCV000581398 pathogenic Hereditary breast ovarian cancer syndrome 2016-11-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 23 and the first 19 nucleotides of exon 24 of the BRCA2 gene (c.8954-8_9136del). The 5' breakpoint of this deletion is within intron 22 at c.8954-8, and the 3' breakpoint is within exon 24 at c.9136. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
BRCAlab, Lund University RCV003494568 SCV004244412 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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