Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000535182 | SCV000635105 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2018-02-22 | criteria provided, single submitter | clinical testing | This variant is a copy number gain of the genomic region encompassing exons 14-24 of the BRCA2 gene. Four copies of this region have been detected, but the exact position of these copies in the genome is not known. However, sub-genic duplications are generally in tandem (PMID: 25640679) and it is likely that three copies of this region (i.e. a triplication) are in tandem and may result in an absent or disrupted protein product This variant has not been reported in the literature in individuals with BRCA2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |