Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031712 | SCV001195018 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-04-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 7-23 of the BRCA1 gene. The 5' boundary is likely confined to intron 6. 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 BRCA1 protein by removing ~93% of the full-length protein. Loss-of-function variants including gross deletions in BRCA1 are known to be pathogenic. Deletion of exons 7-23 has been reported in the literature in an individual with breast cancer (PMID: 16551709), and is referred to as a deletion of exons 8-24. For these reasons, this variant has been classified as Pathogenic. |