Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000793627 | SCV000932989 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-07-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related disease. This sequence change creates a premature translational stop signal (p.Glu2981Lysfs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800884 | SCV002047185 | likely pathogenic | not provided | 2021-05-28 | criteria provided, single submitter | clinical testing | This frameshift variant is predicted to cause the premature termination of BRCA2 protein synthesis. To the best of our knowledge, the variant has not been reported in the published literature. This variant has not been reported in large, multi-ethnic general populations. Based on the available information, the variant is classified as likely pathogenic. |
| Ambry Genetics | RCV003166106 | SCV003853834 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-03 | criteria provided, single submitter | clinical testing | The c.8941_8944delGAAA pathogenic mutation, located in coding exon 21 of the BRCA2 gene, results from a deletion of 4 nucleotides at nucleotide positions 8941 to 8944, causing a translational frameshift with a predicted alternate stop codon (p.E2981Kfs*6). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Gene |
RCV001800884 | SCV004021661 | pathogenic | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; Also known as 9169_9172del |