Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000238610 | SCV000299689 | 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. |
| Invitae | RCV000198736 | SCV000253906 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-09-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn682*) 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). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 22762150). ClinVar contains an entry for this variant (Variation ID: 216102). For these reasons, this variant has been classified as Pathogenic. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001281711 | SCV000296434 | pathogenic | not provided | 2020-04-02 | 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 patient with expected phenotype for this gene, and not found in general population data. |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000238610 | SCV000325218 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000572957 | SCV000661093 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-04-05 | criteria provided, single submitter | clinical testing | The c.2043dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 2043, causing a translational frameshift with a predicted alternate stop codon (p.N682*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Counsyl | RCV000238610 | SCV000677721 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-03-24 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000572957 | SCV001348871 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-14 | criteria provided, single submitter | clinical testing | This variant inserts 1 nucleotide 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 been reported in an individual affected with ovarian cancer (PMID: 28588062) and in a suspected hereditary breast and ovarian cancer family (PMID: 22762150). 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. Based on the available evidence, this variant is classified as Pathogenic. |
| Baylor Genetics | RCV000238610 | SCV004216928 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-08-10 | criteria provided, single submitter | clinical testing |