Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495487 | SCV000578465 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Ambry Genetics | RCV000167361 | SCV000218213 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-19 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001640250 | SCV000605899 | likely benign | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000550800 | SCV000636004 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000167361 | SCV000683242 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-13 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000495487 | SCV000785187 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000508616 | SCV000916750 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640250 | SCV001856786 | benign | not provided | 2015-04-23 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000495487 | SCV004016786 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003491918 | SCV004240274 | uncertain significance | Breast and/or ovarian cancer | 2022-10-17 | criteria provided, single submitter | clinical testing | |
King Laboratory, |
RCV001171418 | SCV001251323 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome | 2019-09-01 | no assertion criteria provided | research | |
University of Washington Department of Laboratory Medicine, |
RCV000495487 | SCV002568356 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2021-07-21 | no assertion criteria provided | clinical testing | Based on functional RNA studies, the BRCA1 c.5022C>T variant was shown to disrupt splicing regulatory motifs in BRCA1 exon 17 and results in exon skipping, which leads to a premature stop codon in 32% of transcripts from the variant allele (Casadei 2019). These studies provide some evidence that this variant is pathogenic for a hypomorphic risk. Because this variant results in some full length BRCA1 transcripts, the cancer risks conferred by this variant are likely to be different than the risks associated with other pathogenic BRCA1 variants. Some literature suggests that variants like this one should be classified as variants of uncertain significance because the level of associated risk has not been established (Fraile-Bethencourt 2017). |