Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587964 | SCV000695063 | uncertain significance | not specified | 2019-10-07 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.7435+17delT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 249700 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7435+17delT in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One other clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
Color Diagnostics, |
RCV000772489 | SCV000905668 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079038 | SCV001084888 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-07-28 | criteria provided, single submitter | clinical testing |