Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000241076 | SCV000300173 | 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 |
RCV000241076 | SCV000326066 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Department of Medical Genetics, |
RCV000241076 | SCV000564326 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-07-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000241076 | SCV004032271 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-08-07 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS4_MOD,PM2_SUP |
Invitae | RCV003530022 | SCV004297795 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-05-02 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25863477, 29339979). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1645Lysfs*14) 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). ClinVar contains an entry for this variant (Variation ID: 254459). For these reasons, this variant has been classified as Pathogenic. |
Breast Cancer Information Core |
RCV000241076 | SCV000145211 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-11-25 | no assertion criteria provided | clinical testing | |
German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV000785417 | SCV000923989 | pathogenic | Neoplasm of ovary | 2018-12-01 | no assertion criteria provided | research |