Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000257884 | SCV000323471 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-10-18 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000257884 | SCV000325383 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001064583 | SCV001229493 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu842Glyfs*10) 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 individuals affected with ovarian cancer (PMID: 18559594, 28176296). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is also known as 2644insG in the literature. ClinVar contains an entry for this variant (Variation ID: 266272). |
Center for Genomic Medicine, |
RCV003321576 | SCV004026787 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing |