BRAF L485F - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(BRAF Leu485Phe)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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