Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033371 | SCV001196678 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 of the BRCA1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). A similar copy number variant has been observed in individual(s) with personal and/or family history of breast and/or ovarian cancer (PMID: 2482513, 16715518). This variant is also known as deletion exons 5–8. For these reasons, this variant has been classified as Pathogenic. |