Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708224 | SCV000837334 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2018-03-07 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 20 of the BRCA2 gene. While the exact position of the duplicated exon cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. Similar duplications of exon 20 have been reported in families affected with breast cancer (PMID: 17063271). ClinVar contains an entry for this variant (Variation ID: 267699). 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. |