BRAF G466V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

BRAF G466V

(BRAF Gly466Val)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.977 (probably damaging)
    Web search results (60 hits -- see all)
  • AutoGenomics INFINITI BRAF
    The INFINITI® BRAF Assay is designed to identify BRAF genetic mutations. ... Codon 466: G466A, G466E, G466V. Codon 569: G469A, G469E. Codon 597: ...
    www.autogenomics.com/1/cancer_BRAF.php
  • Genetic Predictors of MEK Dependence in Non-Small Cell Lung ...
    Although BRAF is the kinase most frequently mutated in human tumors, the ... in exons 11 and 15 of BRAF (G466V, G469A, L597V, L597R, and V600E) using a mass ...
    cancerres.aacrjournals.org/cgi/content/full/68/22/9375
  • Cancer Genome Project Data
    Mutations of the BRAF gene in human cancer. Davies H, Bignell GR, Cox ... p.G466V. NCI-H1755. BRAF. p.G469A. NCI-H1792. KRAS. p.G12C. NCI-H2009. KRAS. p. ...
    sanger.ac.uk/perl/genetics/CGP/cgp_viewer?...&pmid=12068308
  • Catalogue of Somatic Mutations in Cancer
    Mutations of the BRAF gene in human cancer. Davies H, Bignell GR, Cox ... Mutations of the BRAF gene in human cancer. - More Details. Individual ...
    sanger.ac.uk/perl/genetics/CGP/...?action=sample&id=684679
  • Development and Applications of a BRAF Oligonucleotide ...
    Development and Applications of a BRAF Oligonucleotide Microarray ... BRAF mutation,11 the NCI-H1666 NSCLC cell line harboring the G466V mutation, ...
    jmd.amjpathol.org/cgi/content/full/9/1/55
  • share.gene.com
    ... BRAF E586E BRAF E586K BRAF F468C BRAF F583F BRAF F595L BRAF F595S BRAF G464E BRAF G464R BRAF G464V BRAF G466A BRAF G466E BRAF G466R BRAF G466V ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • Development and Applications of a BRAF Oligonucleotide Microarray
    Development and Applications of a BRAF Oligonucleotide Microarray ... BRAF mutation,11 the NCI-H1666 NSCLC cell line harboring the G466V mutation, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1867429
  • The role of RAS and BRAF signalling in melanoma
    G466V. 1. V600E. 480. BRaf V600E 0.2ng. Inactive in vitro ...but active in vivo. Impaired ... BRAF. G466V. Fold activity (compared to WTBRAF) 10. 20. 30. 0. WM266.4 ...
    hgm2006.hugo-international.org/Presentations/S6/...
  • Identification of genotype-correlated sensitivity to ...
    The discovery of recurrent BRAF kinase mutations in 70–80% of melanomas is among ... as are cell lines with distinct BRAF mutations, such as G466V and G469A (exon 11) (SI Fig. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2148401/?tool=pubmed
  • MoKCa
    Mutations of BRAF. B-Raf proto-oncogene serine/threonine-protein kinase - Homo sapiens ... Project COSMIC entry for BRAF. SwissProt/UNIPROT primary accession ...
    strubiol.icr.ac.uk/extra/mokca/mut_by_prot.php?protein_q=44

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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