ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1433-19A>G (rs369635503)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000522961 SCV000616394 benign Rasopathy 2017-04-03 reviewed by expert panel curation The c.1433-19A>G variant in BRAF has been identified in at least 2 patients with clinical features of a RASopathy (PS4_Supporting; GeneDx, Greenwood Genetics, Otto von Guericke University Magdeburg, internal data, GTR ID's: 26957, 1019; ClinVar SCV000207632.1, SCV000167210.14). However, the filtering allele frequency of the c.1433-19A>G variant in the BRAF gene is 0.11% for European (Non-Finnish) chromosomes by the Exome Aggregation Consortium (120/65832 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; GeneDx internal data, GTR ID's: 26957; ClinVar SCV000167210.14). This variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). In summary, this variant meets criteria to be classified as benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): PS4_Supporting, BA1, BP5, BP7.
GeneDx RCV000123867 SCV000167210 benign not provided 2016-05-31 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.
PreventionGenetics,PreventionGenetics RCV000157706 SCV000310107 likely benign not specified criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000123867 SCV000207632 uncertain significance not provided 2015-01-15 no assertion criteria provided clinical testing

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