ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2402G>A (p.Cys801Tyr)

dbSNP: rs1567795821
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705618 SCV000834623 uncertain significance Hereditary breast ovarian cancer syndrome 2022-09-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 581709). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 801 of the BRCA1 protein (p.Cys801Tyr).
Color Diagnostics, LLC DBA Color Health RCV001184336 SCV001350296 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184336 SCV002732580 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-21 criteria provided, single submitter clinical testing The p.C801Y variant (also known as c.2402G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 2402. The cysteine at codon 801 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is not well 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001184336 SCV003847698 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).
All of Us Research Program, National Institutes of Health RCV003999768 SCV004818184 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2023-04-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.