Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000771435 | SCV000903804 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000771435 | SCV001184020 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-11 | 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. |
Invitae | RCV001360876 | SCV001556831 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002267823 | SCV002550976 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477450 | SCV004219398 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.000008 (2/251360 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported as a neutral variant (PMID: 29884841 (2019)) that does not impact BRCA1 transcription (PMIDs: 30765603 (2019) and 28781887 (2016)), however further functional studies are needed. It has been reported in individuals with breast and/or ovarian cancer (PMIDs: 33471991 (2021), 30555256 (2018)), as well as in healthy individuals (PMID: 33471991 (2021)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
Breast Cancer Information Core |
RCV000112317 | SCV000145058 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-12-23 | no assertion criteria provided | clinical testing |