ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2128-16C>T

dbSNP: rs368721021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123872 SCV000167216 benign not specified 2014-01-08 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123872 SCV001372302 benign not specified 2020-06-15 criteria provided, single submitter clinical testing Variant summary: BRAF c.2128-16C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.01254 in 25748 control chromosomes (gnomAD v3). This variant frequency is approximately 5016-fold of the estimated maximal expected allele frequency for a pathogenic variant in BRAF causing Noonan Syndrome and Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is a benign polymorphism. To our knowledge, no occurrence of c.2128-16C>T in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation in 2014) cites the variant as Benign. Based on the evidence outlined above, the variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514663 SCV003510586 likely benign RASopathy 2023-12-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712089 SCV005270686 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915238 SCV004728269 likely benign BRAF-related disorder 2022-05-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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