ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.483G>C (p.Leu161=) (rs61730029)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000523533 SCV000616463 likely benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.483G>C (p.Leu161=) variant in the BRAF gene is 0.0315% (7/10404) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037949 SCV000061614 likely benign not specified 2010-02-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588891 SCV000698341 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The BRAF c.483G>C (p.Leu161=) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 8/121376 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.000673 (7/10404). This frequency is about 269 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 African origin. In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has neither been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories nor was it evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
GeneDx RCV000037949 SCV000720734 benign not specified 2017-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000588891 SCV001002874 likely benign not provided 2018-05-05 criteria provided, single submitter clinical testing
Invitae RCV000523533 SCV001597832 likely benign Rasopathy 2020-09-24 criteria provided, single submitter clinical testing

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