Total submissions: 11
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000494789 | SCV000578340 | 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 | RCV000163399 | SCV000213940 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-09 | 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 |
RCV001085698 | SCV000253509 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-12-05 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000428938 | SCV000512314 | benign | not specified | 2015-04-27 | 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. |
| Color Diagnostics, |
RCV000163399 | SCV000683253 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-02 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000428938 | SCV000887712 | likely benign | not specified | 2020-09-22 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV000163399 | SCV002537810 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-07 | criteria provided, single submitter | curation | |
| All of Us Research Program, |
RCV000494789 | SCV004817592 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2024-02-05 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000428938 | SCV005883098 | likely benign | not specified | 2024-12-06 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001353890 | SCV000591579 | likely benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The p.Thr1700Thr variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has not been previously identified by our laboratory, but has been reported in the literature in a study involving 55,630 probands (frequency was not provided) from families with familiar breast and ovarian cancers, and classified as a variant of benign significance. In addition, no control chromosomes were tested to establish the frequency of the variant in the general population (Judkins 2005). This variant is listed in the dbSNP database (ID#:rs45519437) but no frequency information was provided, and so the prevalence of this variant in the population is not known. The variant was also identified in the UMD database (2x) and once in the presence of a second unclassified variant, although this does not provide any additional clarification as to the clinical significance of this variant. In summary, based on the above information, this variant is predicted benign. | |
| Brotman Baty Institute, |
RCV000494789 | SCV001237599 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |