Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495466 | SCV000578233 | 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 | RCV000165026 | SCV000215723 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-25 | 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. |
Color Diagnostics, |
RCV000165026 | SCV000683023 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000876277 | SCV001018833 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-03-21 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000500291 | SCV000591377 | likely benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The p.Glu765Glu 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. This variant was not identified in the literature and was identified in only one public database: the 1000 genomes project (dbSNP ID:rs201875054), although there was only one observation and so the prevalence of this variant in the general population cannot be determined without further validation. In summary, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as predicted benign. |