Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000409819 | SCV000578018 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0028 (South Asian), derived from ExAC (2014-12-17). |
Gene |
RCV000160251 | SCV000210669 | benign | not specified | 2014-10-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000163212 | SCV000213735 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV001085334 | SCV000252615 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409819 | SCV000488659 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163212 | SCV000683966 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758961 | SCV000887941 | benign | not provided | 2019-03-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000160251 | SCV001158087 | benign | not specified | 2018-12-31 | criteria provided, single submitter | clinical testing | |
National Health Laboratory Service, |
RCV001085334 | SCV002504865 | benign | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163212 | SCV002531944 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-31 | criteria provided, single submitter | curation | |
CHEO Genetics Diagnostic Laboratory, |
RCV003492646 | SCV004240364 | likely benign | Breast and/or ovarian cancer | 2023-05-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000409819 | SCV004845656 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001353520 | SCV000592190 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The BRCA2 p.Ser2807Ser variant was not identified in the literature. The variant was identified in dbSNP (ID: rs371278843) “With Likely benign allele”, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC) database, the ClinVar database (classified as a benign variant by GeneDx; classified as likely benign by Ambry Genetics), GeneInsight COGR database (1X, classified as “likely benign” by a clinical laboratory), and UMD (1X as a UV variant). This variant was identified in the Exome Variant Server project in 1 of 4406 African American alleles, the Exome Aggregation Consortium (ExAC) database (released Jan 13, 2015). The variant was also identified in 46 of 16508 individuals from South Asia (frequency: 0.0028) and once in homozygous state, increasing the likelihood this variant does not have clinical significance. It was also identified in one East Asian and one African individual, increasing the likelihood this could be a low frequency benign variant in certain populations of origin. The p.Ser2807Ser variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. It should be noted that another variant at the same position (c.8421G>T, p.Ser2807Ser) did not show splicing aberration and classified as Class 2, likely not pathogenic, according to the IARC 5 class system (Thomassen 2012). In summary, based on the above information this variant is classified as benign. | |
Clinical Genetics Laboratory, |
RCV000758961 | SCV001906060 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000758961 | SCV001953442 | likely benign | not provided | no assertion criteria provided | clinical testing |