ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2136C>T (p.Ala712=)

gnomAD frequency: 0.00003  dbSNP: rs377165711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037945 SCV000061610 likely benign not specified 2012-04-06 criteria provided, single submitter clinical testing p.Ala712Ala in Exon 18 of BRAF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS;).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587057 SCV000698337 benign not provided 2016-12-12 criteria provided, single submitter clinical testing Variant summary: The BRAF c.2136C>T (p.Ala712Ala) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 7/120766 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0001054 (7/66430). This frequency is about 42 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, one clinical diagnostic laboratory/reputable database classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV001447826 SCV001650902 likely benign RASopathy 2023-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415472 SCV002730032 likely benign Cardiovascular phenotype 2022-07-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002496605 SCV002806271 likely benign Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2021-09-23 criteria provided, single submitter clinical testing

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