Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077070 | SCV000299412 | 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 | RCV000801060 | SCV000940816 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-04-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast cancer (PMID: 30039884). ClinVar contains an entry for this variant (Variation ID: 91553). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys47*) 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). |
Sharing Clinical Reports Project |
RCV000077070 | SCV000108867 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-01-23 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000077070 | SCV001237966 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |