ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2587G>A (p.Val863Ile)

dbSNP: rs1555589325
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569809 SCV000665880 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-17 criteria provided, single submitter clinical testing The p.V863I variant (also known as c.2587G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 2587. The valine at codon 863 is replaced by isoleucine, an amino acid with highly similar 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758800 SCV000887647 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Invitae RCV001229667 SCV001402121 uncertain significance Hereditary breast ovarian cancer syndrome 2023-01-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 481465). 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. 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 valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 863 of the BRCA1 protein (p.Val863Ile).
University of Washington Department of Laboratory Medicine, University of Washington RCV000569809 SCV003847560 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).

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.