Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206198 | SCV000259831 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-01-10 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 8-11 of the BRCA1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants, including exon-level deletions, in BRCA1 are known to be pathogenic. A similar deletion of exons 8-11 has been reported in individuals and families affected with breast and/or ovarian cancer, and is highly prevalent in the Hispanic population (PMID: 17646271, 24522996, 22544547, 25236687). This variant is also known as deletion of exons 9-12 in the literature. For these reasons, this variant has been classified as Pathogenic. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000258331 | SCV000326331 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing |