BRAF G469R - 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 G469R

(BRAF Gly469Arg)


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: 1.0 (probably damaging)
    Web search results (30 hits -- see all)
  • MoKCa
    Home :: List of genes :: Mutations of BRAF :: G469R. BRAF G469R. Mutation type. Missense. Domain. pfam_A: Pkinase residues 457 to 714. Prevalence ...
    strubiol.icr.ac.uk/extra/mokca/aggregate.php?...
  • Catalogue of Somatic Mutations in Cancer
    BRAF. KRAS. NF1. Samples with Mutations. Sample. Gene. Mutation. Sample. Gene ... BRAF. p.G469R. 1128313. KRAS. p.G13D. 1128315. BRAF. p.L597Q. 1128316. KRAS. p. ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&pmid=18592002
  • Functional Characterization of the Novel T599I-VKSRdel BRAF ...
    Context: Mutations in BRAF are rare in the follicular variant of ... G469R (8) point mutations as well as complex genetic alterations such as the AKAP9-BRAF ...
    jcem.endojournals.org/cgi/content/full/93/11/4398
  • Catalogue of Somatic Mutations in Cancer
    BRAF is involved in fusions with FCHSD1 (1), KIAA1549 (120) ... p.G469A(16) p.G469A(1) p.G469E(5) p.G469R(1) p.G469R(4) p.G469R(1) p.G469S(3) p.G469S(1) p.G469S(1) p.G469S(1) ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?action=bygene&ln=BRAF
  • share.gene.com
    ... BRAF G466A BRAF G466E BRAF G466R BRAF G466V BRAF G469A BRAF G469E BRAF G469R BRAF G469S BRAF G469V BRAF G596R BRAF G606E BRAF G615R BRAF H608R ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • 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, G469R, D594V/G, ... E, G466R, F468C, G469S, G469E, G469A, G469V, G469R, G469R, D594V/G, ...
    sequenom.com/getdoc/.../oncocarta-flyer-services
  • RAS Signaling in Colorectal Carcinomas through Alterations of ...
    BRAF were sequenced, and promoter hypermethylation status of RASSF1A was assessed with a ... of BRAF, KRAS, and RASSF1A in a sample series selected to include a ...
    www.neoplasia.com/pdf/manuscript/v10i07/neo08312.pdf
  • 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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