Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001085851 | SCV000076611 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000131372 | SCV000186348 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-21 | 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. |
Gene |
RCV000588983 | SCV000209913 | likely benign | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23161852, 15385441, 16267036, 17719744) |
Counsyl | RCV000031181 | SCV000489049 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-08-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000131372 | SCV000683194 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003234929 | SCV000699157 | uncertain significance | not specified | 2023-05-08 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.457A>C (p.Ser153Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 251428 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.457A>C has been reported in the literature in at least one individual undergoing genetic testing (Judkins_2005). This report however, does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Co-occurrence with another pathogenic variant have been reported (BRCA2 c.9253_9254insA, p.Thr3085Asnfs) in BIC database, providing supporting evidence for a benign role. One functional study in the literature suggests that the variant does not significantly affect BRCA1 function as demonstrated by two different DNA repair assays(Towler_2013). The following publications have been ascertained in the context of this evaluation (PMID: 29416040, 16267036, 17719744, 23161852, 30617304, 34981296). Six other ClinVar submitters (evaluation after 2014) cite the variant as likely benign (n=5) or uncertain significance (n=1). Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000588983 | SCV001133588 | likely benign | not provided | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031181 | SCV000053781 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2013-01-18 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031181 | SCV000145588 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
BRCAlab, |
RCV000031181 | SCV004244167 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |