Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112079 | SCV000299930 | 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 |
RCV000112079 | SCV000328430 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386167 | SCV001586302 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-05-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1120Leufs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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 individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 22762150). This variant is also known as c.3476delT in the literature. ClinVar contains an entry for this variant (Variation ID: 125631). |
Breast Cancer Information Core |
RCV000112079 | SCV000144736 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1997-04-10 | no assertion criteria provided | clinical testing |