Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000258194 | SCV000326098 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000797612 | SCV000937179 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2022-12-07 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant results in skipping of exon 16 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. Experimental studies have shown that this variant affects BRCA1 function (PMID: 30209399). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 267568). This variant has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 29446198, 30078507). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 15 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. |
National Health Laboratory Service, |
RCV000797612 | SCV002025919 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496749 | SCV000587442 | uncertain significance | not specified | 2014-01-31 | no assertion criteria provided | research | |
Brotman Baty Institute, |
RCV000258194 | SCV001243886 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro | ||
Center for Precision Medicine, |
RCV002250609 | SCV002520791 | pathogenic | Familial cancer of breast | no assertion criteria provided | literature only |