Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001261448 | SCV001438745 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-03-11 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 14-16 in the BRCA2 gene. A presumed nomenclature of c.(7007+1_7008-1)_(7805+1_7806-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a large in-frame deletion in the BRCA2 gene, a known mechanism of disease. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, gnomAD, ESP, 1000G) cannot detect variants of this type. The variant, c.(7007+1_7008-1)_(7805+1_7806-1)del, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer or Prostate Cancer (Woodward_2005, Edwards_2010, Kang_2010). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |