Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001825133 | SCV002074448 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2022-01-27 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.8099delT (p.Ile2700AsnfsX33) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251356 control chromosomes (gnomAD). To our knowledge, no occurrence of c.8099delT in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV001825133 | SCV002234768 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-11-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile2700Asnfs*33) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic. |