Total submissions: 2
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, |
RCV003494568 | SCV004244412 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2020-03-02 | no assertion criteria provided | clinical testing |