Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112203 | SCV000300030 | 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. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000112203 | SCV000325772 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514245 | SCV003441869 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1286Valfs*21) 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 breast cancer (PMID: 24578176). ClinVar contains an entry for this variant (Variation ID: 55030). For these reasons, this variant has been classified as Pathogenic. |
Breast Cancer Information Core |
RCV000112203 | SCV000144900 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2006-07-19 | no assertion criteria provided | clinical testing |