Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000199696 | SCV000253715 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-12-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 16-18 of the BRCA1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Deletion of exons 16-18 have been reported in the literature in individuals affected with breast and ovarian cancer (PMID: 18097605, 18546071, 10978226, 23704984). This variant is also known as deletion of exons 17-19 in the literature. This deletion results in the loss of 69 amino acid residues located in the BRCT1 domain of the BRCA1 protein. This domain is essential for BRCA1 protein-protein interactions (PMID: 15133502). For these reasons, this variant has been classified as Pathogenic. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000258168 | SCV000326089 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing |