Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111828 | SCV000299747 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Invitae | RCV000687615 | SCV000815193 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-05-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln780Glyfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 125555). For these reasons, this variant has been classified as Pathogenic. |
Breast Cancer Information Core |
RCV000111828 | SCV000144383 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2006-07-19 | no assertion criteria provided | clinical testing |