ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9206G>A (p.Cys3069Tyr)

dbSNP: rs587782091
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001861856 SCV002290204 uncertain significance Hereditary breast ovarian cancer syndrome 2023-01-06 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 BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 559995). This variant has not been reported in the literature in individuals affected with BRCA2-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 3069 of the BRCA2 protein (p.Cys3069Tyr).
Ambry Genetics RCV004948563 SCV005548599 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-19 criteria provided, single submitter clinical testing The p.C3069Y variant (also known as c.9206G>A), located in coding exon 23 of the BRCA2 gene, results from a G to A substitution at nucleotide position 9206. The cysteine at codon 3069 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
3DMed Clinical Laboratory Inc RCV000677843 SCV000804003 uncertain significance Malignant tumor of pancreas 2017-08-19 no assertion criteria provided 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.