BRAF K499E - 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 K499E

(BRAF Lys499Glu)


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: 0.755 (possibly damaging)
    Web search results (9 hits -- see all)
  • Noonan and cardio-facio-cutaneous syndromes: two clinically ...
    The genetic aetiology of CFC was recently assigned to four genes: BRAF, KRAS, MEK1 and MEK2. ... we also identified a mutation, BRAF K499E, that has previously been reported in ...
    jmg.bmj.com/content/45/8/500.abstract
  • An unexpected new role of mutant Ras: perturbation of human ...
    Their genotypes are PTPN11 G503R, BRAF K499E, and HRAS G13C, respectively. ... Mutations in BRAF and MEK1/2 have been excluded as major NS genes (M. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1820751
  • Hyperactive Ras in developmental disorders and cancer
    The BRAF–mitogen-activated and extracellular-signal regulated kinase kinase (MEK) ... The BRAF mutations that occur in CFC. syndrome introduce amino acid substitutions that are ...
    150.164.24.201/2009/ras2008.pdf
  • Targeting the Raf-MEK-ERK mitogen-activated protein kinase ...
    Division of Pharmacotherapy and Experimental Therapeutics, Lineberger ... University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Mitogen-activated ...
    www.d.umn.edu/~pschoff/documents/MAPKrev.pdf
  • Berglund, E (Erna)
    In one NS patient, we also identified a BRAF K499E that previously has been reported in patients with CFC. ... we also identified a BRAF K499E that previously has been reported ...
    lib.bioinfo.pl/auid:8456109
  • Noonan and cardio-facio-cutaneous syndromes : two clinically ...
    The genetic aetiology of CFC was recently assigned to four genes: BRAF, KRAS, MEK1 and MEK2. ... we also identified a mutation, BRAF K499E, that has previously been reported in ...
    cat.inist.fr/?aModele=afficheN&cpsidt=20546761
  • Further delineation of the phenotype resulting from BRAF or ...
    BioInfoBank Library :: Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from ...
    lib.bioinfo.pl/pmid:17551924
  • OMIM
    Thyroid cancri con BRAF mutazione erano preferenzialmente sensibili to MEK inhibitors, ... in esone 12 della BRAF gene, predicendo a lys499-to-glu (K499E) aminoacidi cambiamenti. ...
    www.fonama.org/i_omim/1/i_164757.htm

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in