Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588254 | SCV000695046 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2016-10-03 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.718_719delCT (p.Leu240Glufs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 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 (e.g. c.755_758delACAG (p.Asp252fs), and c.778_779delGA (p.Glu260fs)). The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable clinical diagnostic laboratories/databases. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as likely pathogenic until additional information becomes available. |
| Labcorp Genetics |
RCV000588254 | SCV000759033 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-09-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 495496). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu240Glufs*4) 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). For these reasons, this variant has been classified as Pathogenic. |