BRAF L485F - 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 L485F

(BRAF Leu485Phe)


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: 0.23 (possibly damaging)
    Web search results (9 hits -- see all)
  • Cardiofaciocutaneous Syndrome -- GeneReviews -- NCBI Bookshelf
    Both have BRAF mutations: p.G534R, a missense substitution in exon 13 (left) and p.L485F, a missense ... The vast majority of BRAF mutations are missense substitutions found ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cfc
  • Catalogue of Somatic Mutations in Cancer
    BRAF is involved in fusions with FCHSD1 (1), KIAA1549 (120) Details ... Details for BRAF. Primary Tissue. Unique Mutated Samples % Mutated. Total Unique Samples ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?action=bygene&ln=BRAF
  • Cardiofaciocutaneous Syndrome
    Identification of mutations in BRAF, MAP2K1, MAP2K2, or KRAS by direct gene ... of BRAF mutations are missense substitutions found in, but not limited to, exon ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • Hyperactive Ras in developmental disorders and cancer
    The BRAF–mitogen-activated and extracellular-signal regulated kinase ... BRAF. proteins have increased kinase activity, including some (Q257R, S467A, L485F and ...
    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
  • OMIM
    Thyroid cancri con BRAF mutazione erano preferenzialmente sensibili to MEK inhibitors, ... in esone 12 della BRAF gene, predicendo a leu485-to-phe (L485F) aminoacidi cambiamenti. ...
    www.fonama.org/i_omim/1/i_164757.htm
  • p16
    Mutation status of BRAF exon 11 and part of exon 12 was deter ... tions, both G466V and L485F are within the B-RAF kinase domain. and have elevated kinase activity in vivo [34 ...
    www.neoplasia.com/pdf/manuscript/v10i11/neo08702.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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