ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1929A>G (p.Gly643=) (rs9648696)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000033338 SCV000196685 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
ClinGen RASopathy Variant Curation Expert Panel RCV000033338 SCV000616456 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1929A>G (p.Gly643=) variant in the BRAF gene is 66.117% (6984/10356) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037940 SCV000058308 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000033338 SCV000057243 benign Rasopathy 2012-01-24 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
GenomeConnect, ClinGen RCV000509253 SCV000607337 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000037940 SCV000207628 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306807 SCV000466968 benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361471 SCV000466969 benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266739 SCV000466970 benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000037940 SCV000918664 benign not specified 2017-11-16 criteria provided, single submitter clinical testing Variant summary: The BRAF c.1929A>G (p.Gly643Gly) variant involves the alteration of a nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect any ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 25661/120836 control chromosomes at a frequency of 0.2123622, which is approximately 84945 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037940 SCV000061605 benign not specified 2007-12-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037940 SCV000310111 benign not specified criteria provided, single submitter 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.