Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031053 | SCV001194359 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 12-21 of the BRCA1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with breast cancer (PMID: 26681312). The region of the BRCA1 gene that includes exon(s) 20-21 has been determined to be clinically significant (PMID: 17561994, 20516115, 21203900, 22843421, 25066186, 25066507). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |