Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000889052 | SCV001032711 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV003492294 | SCV001139555 | likely benign | Hereditary cancer | 2024-01-23 | criteria provided, single submitter | clinical testing | |
H3Africa Consortium | RCV001777137 | SCV002014656 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.052, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
Gene |
RCV000889052 | SCV002032718 | uncertain significance | not provided | 2021-04-30 | criteria provided, single submitter | clinical testing | Observed in individuals with breast cancer but also in controls (Kato 2000, Le Calvez-Kelm 2012, Ding 2018, Shin 2020); Published functional studies are inconclusive: retention of polymer formation, decreased single strand and double strand DNA binding activities, and conflicting ATP-hydrolyzing activity (Ishida 2007, Chen 2015); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17666788, 10807537, 25539919, 23300655, 28864920, 27153395, 16762046, 32019277, 30271574, 31589614) |
Genetic Services Laboratory, |
RCV001777137 | SCV002069109 | likely benign | not specified | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003944821 | SCV004761412 | likely benign | RAD51-related condition | 2020-04-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000014007 | SCV000034254 | pathogenic | Familial cancer of breast | 2000-01-01 | no assertion criteria provided | literature only |