Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111604 | SCV000299593 | 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 |
RCV000111604 | SCV000325055 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003644878 | SCV004537361 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54236). This variant is also known as 1506delA or c.1387delA. This premature translational stop signal has been observed in individual(s) with breast/and or ovarian cancer (PMID: 10866029, 27836010). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr464Profs*11) 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). |
Breast Cancer Information Core |
RCV000111604 | SCV000144079 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1997-11-18 | no assertion criteria provided | clinical testing |