BRAF L597V - GET-Evidence

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

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Curation:
Currentness:

BRAF L597V

(BRAF Leu597Val)


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
 

Andreadi C, Cheung LK, Giblett S, Patel B, Jin H, Mercer K, Kamata T, Lee P, Williams A, McMahon M, Marais R, Pritchard C. The intermediate-activity L597VBRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. Genes Dev. 2012 Aug 14. [Epub ahead of print] PubMed PMID: 22892241.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.395 (possibly damaging)
    Web search results (70 hits -- see all)
  • MoKCa
    Home :: List of genes :: Mutations of BRAF :: L597V. BRAF L597V. Mutation type. Missense. Domain. pfam_A: Pkinase residues 457 to 714. Prevalence ...
    strubiol.icr.ac.uk/extra/mokca/aggregate.php?...
  • AutoGenomics INFINITI BRAF
    The INFINITIĀ® BRAF Assay is designed to identify BRAF genetic mutations. ... The INFINITI BRAF Assay is for research use only. Not for use in diagnostic procedures. ...
    www.autogenomics.com/1/cancer_BRAF.php
  • Development and Applications of a BRAF Oligonucleotide ...
    Development and Applications of a BRAF Oligonucleotide Microarray ... DNA from NCI-H 2087 cells (harboring an L597V BRAF mutation) using non-CDH microarray ...
    jmd.amjpathol.org/cgi/content/full/9/1/55
  • Cancer Genome Project Data
    Mutations of the BRAF gene in human cancer. Davies H, Bignell GR, Cox C, Stephens P, ... p.L597V. NCI-H2087. NRAS. p.Q61K. NCI-H2291. KRAS. p.G12F. NCI-H358. KRAS. p.G12C. NCI-H460. KRAS. p. ...
    sanger.ac.uk/perl/genetics/CGP/cgp_viewer?...&pmid=12068308
  • Development and Applications of a BRAF Oligonucleotide Microarray
    Development and Applications of a BRAF Oligonucleotide Microarray ... DNA from NCI-H 2087 cells (harboring an L597V BRAF mutation) using non-CDH microarray ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1867429
  • Genetic Predictors of MEK Dependence in Non-Small Cell Lung ...
    Although BRAF is the kinase most frequently mutated in human tumors, the reported ... the H2087 cell line, which also coexpressed the L597V BRAF mutation. ...
    cancerres.aacrjournals.org/cgi/content/full/68/22/9375
  • share.gene.com
    ... BRAF I592M BRAF I592V BRAF K439Q BRAF K439T BRAF K475M BRAF K601E BRAF K601N BRAF L584L BRAF L597L BRAF L597Q BRAF L597R BRAF L597S BRAF L597V ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • Development and Applications of a BRAF Oligonucleotide ...
    Figure 4. Evaluation of CDH with 10 different cancer samples: nine unlabeled DNAs lacking BRAF mutations ... NCI-H2087 cells (harboring the L597V mutation) was labeled with Cy5 ...
    jmd.amjpathol.org/cgi/content/full/9/1/55/F4
  • Catalogue of Somatic Mutations in Cancer
    biliary tract; bile duct; NS; NS. Primary Histology; Subtype1; Subtype ... Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. ...
    sanger.ac.uk/perl/genetics/CGP/...?action=sample&name=E22137
  • 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 = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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