Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001018543 | SCV001179795 | likely benign | Hereditary cancer-predisposing syndrome | 2023-04-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Gene |
RCV001585924 | SCV001813759 | uncertain significance | not provided | 2020-10-07 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Also known as 9182-3C>T |
| Labcorp Genetics |
RCV002551811 | SCV003349134 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-12-09 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001585924 | SCV004220633 | uncertain significance | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.000004 (1/250638 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. To the best of our knowledge, this variant has not been reported in the published literature. However, in a published functional study using a minigene assay, a variant at the same nucleotide position (BRCA2 c.8954-3C>G), resulted in aberrant splicing and a truncated protein product (PMID: 22632462 (2012)). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that the c.8954-3C>T variant does not affect BRCA2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of the BRCA2 c.8954-3C>T variant. |