ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.784C>A (p.Gln262Lys)

dbSNP: rs397507470
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033290 SCV000057195 pathogenic not provided 2024-11-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24803665, 30141192, 37697822, 36347258, 24957944, 15488754, 16439621, 15520807, 17603483, 29493581, 37697378, 18042262)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193980 SCV001363182 likely pathogenic RASopathy 2019-04-29 criteria provided, single submitter clinical testing Variant summary: BRAF c.784C>A (p.Gln262Lys) results in a conservative amino acid change located in the Protein kinase C-like, phorbol ester/diacylglycerol-binding domain (IPR002219) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251244 control chromosomes (gnomAD). c.784C>A has been reported in the literature as de novo occurrence in an individual affected with cardio-facio-cutaneous syndrome (Schulz_2008). Different variants causing a change at the same amino acid residue as the variant of interest (i.e. c.785A>G, p.Q262R; c.785A>C, p.Q262P) have been classified as pathogenic/likely pathogenic by our laboratory and in ClinVar, suggesting that the Gln262 residue is functionally important. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.