ClinVar Miner

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

dbSNP: rs368721021
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Total submissions: 4
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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.
Invitae RCV002514663 SCV003510586 likely benign RASopathy 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915238 SCV004728269 likely benign BRAF-related condition 2022-05-06 criteria provided, single submitter 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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