Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661276 | SCV000783541 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Invitae | RCV001386302 | SCV001586486 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-09-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with ovary cancer (PMID: 28947987), and has also been observed in individuals referred for genetic testing (PMID: 21918853). This variant is also known as c.2847C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54662). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln910*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Clin |
RCV000577003 | SCV000679537 | not provided | Familial cancer of breast | no assertion provided | literature only |