ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.240+6C>T

gnomAD frequency: 0.00002  dbSNP: rs1320075163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614364 SCV000730499 likely benign not specified 2018-01-06 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 RCV001324675 SCV001515635 uncertain significance RASopathy 2023-11-28 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the BRAF gene. It does not directly change the encoded amino acid sequence of the BRAF protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with BRAF-related conditions. ClinVar contains an entry for this variant (Variation ID: 516854). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV003432650 SCV004161210 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing BRAF: BP4

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