BRAF D594G - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

BRAF D594G

(BRAF Asp594Gly)


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 (51 hits -- see all)
  • CRAF inhibition induces apoptosis in melanoma cells with non ...
    Two of these (G469E and D594G) are low-activity BRAF mutants and these cell lines are ... the D594G BRAF mutation, another (WM3670) had the G469E BRAF mutation ...
    www.wistar.org/herlyn/Pub PDFs/2008/Smalley2008-3.pdf
  • CRAF inhibition induces apoptosis in melanoma cells with non ...
    Studies have shown low-activity mutants of BRAF (G469E/D594G) instead signal through CRAF. Unlike BRAF, CRAF directly regulates apoptosis through ...
    www.ncbi.nlm.nih.gov/pubmed/18794803
  • Access : CRAF inhibition induces apoptosis in melanoma cells ...
    These G469E- and D594G-mutated melanomas were found to exhibit constitutive levels of ... activity mutants of BRAF (G469E/D594G) instead signal through CRAF. ...
    www.nature.com/onc/journal/v28/n1/full/onc2008362a.html
  • Oncogene - Abstract of article: CRAF inhibition induces ...
    CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations ... activity mutants of BRAF (G469E/D594G) instead signal through CRAF. ...
    www.nature.com/onc/journal/v28/n1/abs/onc2008362a.html
  • Catalogue of Somatic Mutations in Cancer
    BRAF. KRAS. NF1. Samples with Mutations. Sample. Gene. Mutation. Sample. Gene. Mutation. Sample ... BRAF. p.D594G. 1128297. KRAS. p.G12C. 1128298. KRAS. p.G13D. 1128299. KRAS. p. ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&pmid=18592002
  • [Stability in drinking and surface water of nine virus ...
    BRAF* melanomas appear to be associated with a specific profile of DNA copy number ... activity mutants of BRAF (G469E/D594G) instead signal through CRAF. ...
    lib.bioinfo.pl/pmid:14460
  • Oligonucleotide microarray analysis of distinct gene ...
    ... BRAF somatic mutations, leading researchers to seek molecular targets ... with sample with BRAF sample 481, which was the other non-V600E mutation included in the study (D594G) ...
    carcin.oxfordjournals.org/cgi/content/full/27/3/392
  • untitled
    BRAF mutations are significantly associated to DNA mismatch repair ... harbored the V600E whereas the one left had a G596R mutation, 3 had a D594G, and the last had a 2 base ...
    www.biopat.es/posterbraff.pdf
  • Catalogue of Somatic Mutations in Cancer
    BRAF Mutation Data. Sample Name. Sample ID. AA Mutation. CDS Mutation. Primary Tissue. Tissue ... p.D594G. c.1781A>G. large intestine. left. NS. carcinoma. adenocarcinoma. NS ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&neg=off&page=1
  • Poor Survival Associated with the BRAF V600E Mutation in ...
    The BRAF V600E mutation has been associated with microsatellite ... occurred in codon 594 (D594N, D594G, and D594G) and were present in microsatellite-stable, ...
    cancerres.aacrjournals.org/cgi/content/full/65/14/6063

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in