Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000048274 | SCV000076287 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000129819 | SCV000184633 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-24 | criteria provided, single submitter | clinical testing | The p.E1219K variant (also known as c.3655G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 3655. The glutamic acid at codon 1219 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV001569902 | SCV001794070 | likely benign | not provided | 2021-04-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31131967, 23704879, 15385441) |
University of Washington Department of Laboratory Medicine, |
RCV000129819 | SCV003846329 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001569902 | SCV004219367 | uncertain significance | not provided | 2023-01-03 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.000004 (1/251304 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported as a variant of uncertain significance (PMID: 16267036 (2005)). Additionally, studies utilizing prediction models to assess the variant have reported it both as likely benign (PMID: 31131967 (2019)) and as deleterious (PMIDs: 15385441 (2004) and 23704879 (2013)). 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 |
RCV000112148 | SCV000144826 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |