Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001025692 | SCV001187935 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-30 | criteria provided, single submitter | clinical testing | The c.682-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 8 in the BRCA2 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003530141 | SCV004272022 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-06-16 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 826645). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004689960 | SCV005186098 | uncertain significance | not specified | 2024-05-01 | criteria provided, single submitter | clinical testing |