Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111534 | SCV000299529 | 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. |
Gene |
RCV000047321 | SCV000296789 | pathogenic | Familial cancer of breast | 2016-07-01 | criteria provided, single submitter | clinical testing | |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000111534 | SCV000324942 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Department of Medical Genetics, |
RCV000111534 | SCV000564294 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000519898 | SCV000618409 | pathogenic | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in several individuals with a personal and/or family history of BRCA1-related cancers (Apessos et al., 2018; Carter et al., 2018; Heramb et al., 2018; Bahsi et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 1178G>A; This variant is associated with the following publications: (PMID: 29310832, Bahsi2020[case report], 30322717, 29339979, 25452441, 29446198, 31477031) |
Color Diagnostics, |
RCV001186964 | SCV001353586 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-26 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been detected in at least one individual each affected with breast or ovarian cancer (PMID: 25452441, 30322717) and in suspected hereditary breast and ovarian cancer families and among CIMBA participants (PMID: 29310832, 29339979, 29446198). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Department of Molecular Diagnostics, |
RCV000111534 | SCV001499624 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-04-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000496330 | SCV001587268 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-05-16 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with a personal or family history of breast cancer and/or ovarian cancer (PMID: 25452441, 29310832, 29339979, 29446198, 30322717). ClinVar contains an entry for this variant (Variation ID: 54110). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp353*) 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). |
Breast Cancer Information Core |
RCV000111534 | SCV000143991 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496330 | SCV000587097 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000519898 | SCV001951170 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000519898 | SCV001972168 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
BRCAlab, |
RCV000111534 | SCV004244137 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |