Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707980 | SCV000837090 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-03-28 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the BRCA2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 4 has been reported in an individual affected with breast cancer who also has a pathogenic allele in BRCA1 (PMID: 26287763). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |