Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129517 | SCV000184292 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-26 | 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. |
Gene |
RCV000588811 | SCV000321427 | uncertain significance | not provided | 2023-07-06 | criteria provided, single submitter | clinical testing | Observed individuals undergoing clinical testing for hereditary breast and ovarian cancer (Judkins et al., 2005; Anczukow et al., 2008); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 3262G>A; This variant is associated with the following publications: (PMID: 26306726, 25011685, 15385441, 18273839, 9354803, 23893897, 9150149, 33087888, 30287823, 16267036, 31131967, 15343273, 35264596, 32980694) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000588811 | SCV000600318 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588811 | SCV000699005 | uncertain significance | not provided | 2016-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000112008 | SCV000785538 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-09-06 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000709476 | SCV000839258 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000112008 | SCV001140557 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000709476 | SCV001568312 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000129517 | SCV002538187 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-06 | criteria provided, single submitter | curation | |
University of Washington Department of Laboratory Medicine, |
RCV000129517 | SCV003847399 | 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). |
Color Diagnostics, |
RCV000129517 | SCV004360244 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-18 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with aspartic acid at codon 1048 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in breast, pancreatic and prostate cancer case-control studies in 1 unaffected individual per study and absent in cancer cases (PMID: 30287823, 31214711, 32980694) and in a multifactorial analysis with co-occurrence and family history likelihood ratios for pathogenicity of 1.1391 and 0.4042, respectively (PMID: 31131967). This variant has been identified in 9/282390 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Breast Cancer Information Core |
RCV000112008 | SCV000144648 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |