Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545387 | SCV000635106 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-05-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing the first 37 nucleotides of exon 25 of the BRCA2 gene, including the intron 24-exon 25 boundary (c.9257-1803_9294del). This likely 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. |