Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474951 | SCV000563931 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-08-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-14 of the BRCA2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 14 of the BRCA2 gene. This is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, exon-level deletions and loss-of-function truncating variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |