Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001015823 | SCV001176699 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.2516dupA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of A at nucleotide position 2516, causing a translational frameshift with a predicted alternate stop codon (p.Y839*). 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. |
| Invitae | RCV001225886 | SCV001398180 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-01-22 | criteria provided, single submitter | clinical testing | This nonsense change has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 29446198). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr839*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |