ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.439A>G (p.Ser147Gly)

gnomAD frequency: 0.00001  dbSNP: rs397507464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033276 SCV000057181 likely benign not specified 2011-12-29 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 RCV001852670 SCV002306136 uncertain significance RASopathy 2021-09-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRAF-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRAF protein function. ClinVar contains an entry for this variant (Variation ID: 40343). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 147 of the BRAF protein (p.Ser147Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine.

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