Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001061437 | SCV001226181 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp2611Glufs*34) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002411575 | SCV002670016 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-13 | criteria provided, single submitter | clinical testing | The c.7833_7847del15insGTTTA variant, located in coding exon 16 of the BRCA2 gene, results from the deletion of 15 nucleotides and insertion of 5 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.D2611Efs*34). 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. |