Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000043952 | SCV000071965 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000212202 | SCV000210433 | uncertain significance | not provided | 2023-03-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 443A>G; This variant is associated with the following publications: (PMID: 10923033, 18627636, 28222693, 22476429, 28873162, 30287823, 31925297, 32377563, 30702160, 30883759, 32467295, 31837001, 31853058) |
Counsyl | RCV000113284 | SCV000488136 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562408 | SCV000661174 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-14 | 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. |
Color Diagnostics, |
RCV000562408 | SCV000911190 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-02 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000212202 | SCV001715035 | uncertain significance | not provided | 2020-11-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001778687 | SCV002014954 | uncertain significance | not specified | 2021-10-18 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.215A>G (p.Ser215Arg) 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 4e-05 in 251386 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (4e-05 vs 0.00075), allowing no conclusion about variant significance. c.215A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer (example, Thirthagiri_2008, Lu_2012, Lai_2017) and unaffected healthy control individuals (example Lai_2017, Momozawa_2018, and Guo_2019) . These reports 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. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Five laboratories have classified the variant as unknown significance and two laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS. |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153333 | SCV003843529 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000113284 | SCV000146391 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2010-09-18 | no assertion criteria provided | clinical testing | |
3DMed Clinical Laboratory Inc | RCV000677865 | SCV000804026 | uncertain significance | Infiltrating duct carcinoma of breast | 2018-05-21 | no assertion criteria provided | clinical testing | |
Center for Precision Medicine, |
RCV002250508 | SCV002520923 | uncertain significance | Familial cancer of breast | no assertion criteria provided | literature only |