Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001733422 | SCV001983749 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the duplication of exons 19-20 in the BRCA2 gene. A presumed nomenclature of c.(8331+1_8332-1)_(8632+1_8633-1)dup has been designated for the purposes of this classification. It has been assumed that this is a tandem duplication in direct orientation (Richardson_GIM_2018, Newman_AJHG_2015). Although the exact breakpoints of this duplication are not known, it is expected to result in a frameshift change in the BRCA2, a known mechanism of disease. The variant was absent in 21692 control chromosomes (gnomAD, Structural Variants dataset). Duplication of exons 19-20 has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer Syndrome (e.g. Walsh_2006, Caux-Moncoutier_2011, Rebbeck_2018). These data indicate that the variant is likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as likely pathogenic/pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |