ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3126C>G (p.Ser1042Arg)

dbSNP: rs878854943
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 RCV000228849 SCV000289772 uncertain significance Hereditary breast ovarian cancer syndrome 2015-12-07 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC, no frequency) and has not been reported in the literature. This sequence change replaces serine with arginine at codon 1042 of the BRCA1 protein (p.Ser1042Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Ambry Genetics RCV002321882 SCV002607583 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-21 criteria provided, single submitter clinical testing The p.S1042R variant (also known as c.3126C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 3126. The serine at codon 1042 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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 RCV002321882 SCV003847551 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.