Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001032439 | SCV001195746 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-03-03 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 8-23 of the BRCA1 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This deletion is expected to remove the BRCT domain of the BRCA1 protein, which is important for DNA repair activity (PMID: 25652403, 14576433, 15133503). Sub-genic deletion of exons 20-23 (also known as deletion of exons 21-24) has been determined to be pathogenic (PMID: 16551709, 22544547, 20232141, 17688236, Invitae). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |