BRAF L597R - 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 L597R

(BRAF Leu597Arg)


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
 

Dahlman KB, Xia J, Hutchinson K, Ng C, Hucks D, Jia P, Atefi M, Su Z, Branch S, Lyle P, Hicks DJ, Bozon V, Glaspy JA, Rosen N, Solit DB, Netterville JL, Vnencak-Jones CL, Sosman JA, Ribas A, Zhao Z, Pao W. BRAF L597 mutations in melanoma are associated with sensitivity to MEK inhibitors. Cancer Discov. 2012 Jul 13. [Epub ahead of print] PubMed PMID: 22798288.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (42 hits -- see all)
  • AutoGenomics INFINITI BRAF
    The INFINITI® 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
  • MoKCa
    Home :: List of genes :: Mutations of BRAF :: L597R. BRAF L597R. Mutation type. Missense. Domain. pfam_A: Pkinase residues 457 to 714. Prevalence ...
    strubiol.icr.ac.uk/extra/mokca/aggregate.php?...
  • Cancer Genome Project Data
    BRAF. p.V600E. E14146. BRAF. p.V600E. E14147. BRAF. p.V600E. E14148. BRAF ... p.L597R. E14200. BRAF. p.V600E. E14201. BRAF. p.V600E. E14202. BRAF. p.V600E. E14233. BRAF. p.V600E ...
    sanger.ac.uk/perl/genetics/CGP/...?action=study&study_id=19
  • share.gene.com
    ... BRAF I463S BRAF I582M BRAF I592M BRAF I592V BRAF K439Q BRAF K439T BRAF K475M BRAF K601E BRAF K601N BRAF L584L BRAF L597L BRAF L597Q BRAF L597R ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • Genetic Predictors of MEK Dependence in Non-Small Cell Lung ...
    Although BRAF is the kinase most frequently mutated in human tumors, the reported ... exons 11 and 15 of BRAF (G466V, G469A, L597V, L597R, and V600E) using a mass spectrometry ...
    cancerres.aacrjournals.org/cgi/content/full/68/22/9375
  • 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=684522
  • 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
  • Sequenom, Inc. - Oncogene Rare Somatic Mutations - Profiling ...
    Sequenom's Oncogene Mutation Profiling for rapid screening of somatic mutations using our proprietary oncogene panel including major oncogenes such as EGFR, BRAF, ...
    sequenom.com/getdoc/e351e956-5f99-4597-a11d-e511068f03f5/...
  • Navigate Cancer Genetics
    BRAF. G464R, G464V/E, G466R, F468C, G469S, G469E, G469A, G469V, G469R, ... F595L, G596R, L597S, L597R, L597Q, L597V, T599I, V600E, V600K, V600R, V600L, ...
    sequenom.com/getdoc/.../oncocarta-flyer-services
  • シーケノム株式会社 - 体細胞のレアミューテーション - 体細胞変異の迅速なスクリーニングのプロファイリング 癌遺伝子 ...
    独自の腫瘍遺伝子パネルを使用し、EGFR、BRAF、KIT および KRAS など主要な腫瘍遺伝子を含む体細胞変異の迅速なスクリーニングを行うシーケノム社の腫瘍形成変異プロファイリング。
    sequenom.jp/enja/getdoc/...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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