Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000111784 | SCV000282274 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-04-22 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000111784 | SCV000325277 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000111784 | SCV000785409 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-07-25 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985382 | SCV001133517 | pathogenic | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. |
| Invitae | RCV001390606 | SCV001592394 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-06-27 | 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: 54489). This premature translational stop signal has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 10923033, 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu730Thrfs*5) 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). |
| Color Diagnostics, |
RCV001525607 | SCV001735774 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-08-04 | criteria provided, single submitter | clinical testing | This variant deletes 14 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. 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. |
| Gene |
RCV000985382 | SCV002574335 | pathogenic | not provided | 2018-11-03 | criteria provided, single submitter | clinical testing | Frameshift 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; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; Also known as 2307_2320del, 2307del; This variant is associated with the following publications: (PMID: 21702907, 19648928, 31897316) |
| Breast Cancer Information Core |
RCV000111784 | SCV000144326 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2005-12-20 | no assertion criteria provided | clinical testing |