ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.83GCGCCG[1] (p.28GA[1]) (rs397507458)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033270 SCV000057175 uncertain significance Rasopathy 2014-01-29 criteria provided, single submitter clinical testing c.89_100del12: p.Gly30_Ala33delGlyAlaGlyAla (G30_A33delGAGA) in exon 1 of the BRAF gene (NM_004333.4)The c.89_100del12 in-frame deletion in the BRAF gene has not been reported as a disease-causing mutation, nor is it known to be a benign polymorphism to our knowledge. This deletion occurs in a region of the protein that is not highly conserved in mammals and no disease-causing mutation has been reported before codon Threonine 241. Most disease-causing mutations result in a gain-of-function. It is uncertain if this deletion would result in a gain-of-function, loss-of-function, or have no impact on protein function at all. Therefore, this variant cannot be interpreted for diagnosis or used for genetic counseling without further studies. The variant is found in NOONAN panel(s).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589404 SCV000698347 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing Variant summary: The BRAF c.89_100delGCGCCGGCGCCG (p.Gly30_Ala33del) variant causes an in-frame deletion. This variant is absent in 10494 control chromosomes (ExAC), but was present in 1/10568 chromosomes when filtered (non-PASS) variants were included. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional implications by in vivo/vitro studies. A clinical diagnostic laboratory classifies the variant as "uncertain significance." Therefore, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information (ie, clinical and functional studies) become available.
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV001261848 SCV001439177 likely benign Noonan syndrome 2020-09-22 criteria provided, single submitter clinical testing
Invitae RCV000033270 SCV001489359 uncertain significance Rasopathy 2020-07-21 criteria provided, single submitter clinical testing This variant, c.89_100del, results in the deletion of 4 amino acid(s) of the BRAF protein (p.Gly30_Ala33del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with BRAF-related conditions. ClinVar contains an entry for this variant (Variation ID: 40222). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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