ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4205A>G (p.His1402Arg)

gnomAD frequency: 0.00001  dbSNP: rs80356882
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
Ambry Genetics RCV000222433 SCV000274591 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-03 criteria provided, single submitter clinical testing The p.H1402R variant (also known as c.4205A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4205. The histidine at codon 1402 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Invitae RCV001853008 SCV002177832 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-02 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: 55141). 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 histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1402 of the BRCA1 protein (p.His1402Arg).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112295 SCV000145028 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 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.