Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002382995 | SCV002694036 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-22 | criteria provided, single submitter | clinical testing | The c.9974_10058del85 variant, located in coding exon 26 of the BRCA2 gene, results from a deletion of 85 nucleotides at nucleotide positions 9974 to 10058, causing a translational frameshift with a predicted alternate stop codon (p.F3325Cfs*30). This alteration occurs at the 3' terminus of theBRCA2 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only removes the last 65 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004999732 | SCV005625369 | uncertain significance | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | The BRCA2 c.9974_10058del (p.Phe3325Cysfs*30) variant alters the translational reading frame of the BRCA2 mRNA and is predicted to cause the premature termination of BRCA2 protein synthesis. However, this protein truncation occurs in the terminal end of the protein and its effect on protein function is uncertain. This variant has not been reported in individuals with BRCA2-related conditions in the published literature. The frequency of this variant in the general population, 0.000032 (1/31408 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant. |