Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Vantari Genetics | RCV000210809 | SCV000267015 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000210809 | SCV000275029 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000459507 | SCV000549632 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000521196 | SCV000616971 | uncertain significance | not provided | 2023-06-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 3707G>A; Observed in individuals with a personal and/or family history of breast cancer (Lara et al., 2012; Urbina-Jara et al., 2019); This variant is associated with the following publications: (PMID: 27656653, 31911673, 29884841, 32377563, 31658756, 33281875, 23096355, 30630528) |
Counsyl | RCV000082913 | SCV000785773 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000210809 | SCV000903832 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780007 | SCV000916998 | uncertain significance | not specified | 2022-10-13 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.3479G>A (p.Arg1160Lys) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 250882 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3479G>A has been reported in the literature in an individual affected with breast cancer, without strong evidence for causality (example, Poulet_2016). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (VUS, n=6; likely benign, n=2). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000521196 | SCV001133755 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.00028 (10/35430 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. To the best of our knowledge, the variant has not been reported in individuals with a BRCA2 related disorder in the published literature. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
Sema4, |
RCV000210809 | SCV002533800 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-11 | criteria provided, single submitter | curation | |
University of Washington Department of Laboratory Medicine, |
RCV000210809 | SCV003846634 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
Sharing Clinical Reports Project |
RCV000082913 | SCV000114987 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2011-11-15 | no assertion criteria provided | clinical testing |