BRAF G534R - 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 G534R

(BRAF Gly534Arg)


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: 0.542 (possibly damaging)
    Web search results (5 hits -- see all)
  • Cardiofaciocutaneous Syndrome -- GeneReviews -- NCBI Bookshelf
    Includes: BRAF-Related Cardiofaciocutaneous Syndrome; KRAS-Related Cardiofaciocutaneous ... Both have BRAF mutations: p.G534R, a missense substitution in exon 13 ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cfc
  • Cardiofaciocutaneous Syndrome
    Includes: BRAF-Related Cardiofaciocutaneous Syndrome; KRAS-Related Cardiofaciocutaneous ... Both have BRAF mutations: p.G534R, a. missense substitution in exon 13 ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • OMIM
    Thyroid cancri con BRAF mutazione erano preferenzialmente sensibili to MEK inhibitors, ... arg (G534R) sostituzione, e notarono che CFC-causanti BRAF mutazioni ...
    www.fonama.org/i_omim/1/i_164757.htm

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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