Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000708768 | SCV000822215 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | This variant is a large genomic deletion which encompasses exon 7 of the BRCA1 gene. This deletion removes the entire exon, causing a frameshift at codon 182 of the BRCA1 protein. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been described in the international literature in the individuals with breast cancer (PMID:12670888) and in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). |
German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV000785187 | SCV000923755 | pathogenic | Neoplasm of ovary | 2018-12-01 | no assertion criteria provided | research |