BRAF Q257R - GET-Evidence

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

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Curation:
Currentness:

BRAF Q257R

(BRAF Gln257Arg)


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: 0.413 (possibly damaging)
    Web search results (28 hits -- see all)
  • Genotype-phenotype correlation of ocular manifestations in ...
    All patients with Q257R, the most common mutation in BRAF had strabismus. ... CR1 and protein kinase domains of the BRAF gene exhibited optic nerve hypoplasia. ...
    www.ashg.org/2008meeting/abstracts/fulltext/f21222.htm
  • Cardiofaciocutaneous Syndrome -- GeneReviews -- NCBI Bookshelf
    Includes: BRAF-Related Cardiofaciocutaneous Syndrome; KRAS-Related ... (2006) identified BRAF mutations in 16 of 43 (37%). The exon 6 mutation p.Q257R is the ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cfc
  • Mutation Analysis of BRAF, MEK1 and MEK2 in 15 Ovarian Cancer ...
    Mutation Analysis of BRAF, MEK1 and MEK2 in 15 Ovarian Cancer Cell ... The most common causative CFC mutation, p.Q257R, resides in exon 6 of the cysteine-rich ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2093994
  • PLoS ONE: Mutation Analysis of BRAF, MEK1 and MEK2 in 15 ...
    The most common causative CFC mutation, p.Q257R, resides in exon 6 of the cysteine-rich domain. Like most cancer-causing mutations in BRAF, biochemical ...
    plosone.org/article/info:doi/10.1371/journal.pone.0001279
  • MAPK Pathway Mutations in CFC Syndrome: Delineation of ...
    Novel missense BRAF mutations in exons 13 and 16 (the protein kinase ... CFC individuals with Q257R B-Raf mutations have many phenotypic features in common ...
    www.ashg.org/genetics/abstracts/abs06/f1837.htm
  • Test Information Sheet
    The Q257R missense mutation in exon 6 appears to. be a hot spot, and multiple missense ... and 15 of the BRAF gene (Tier 1) are preferentially sequenced in the ...
    www.genedx.com/pdf_files/info_sheet_cfc.pdf
  • Hyperactive Ras in developmental disorders and cancer
    The BRAF–mitogen-activated and extracellular-signal regulated kinase kinase (MEK) ... BRAF. proteins have increased kinase activity, including some (Q257R, ...
    150.164.24.201/2009/ras2008.pdf
  • journal pone 0001279
    BRAF and MEK1 Mutations. Genomic DNA from 15 ovarian cancer cell lines ... The most common causative CFC mutation, p.Q257R, resides in exon 6 of the cysteine-rich ...
    www.scribd.com/doc/1924247/journal-pone-0001279
  • The cardiofaciocutaneous syndrome -- Roberts et al. 43 (11 ...
    All of these children carry a BRAF mutation. Parents of patients gave written consent to ... (table 5), there are 13 different BRAF mutations, Q257R being the most common (n = 8) ...
    jmg.bmj.com/content/43/11/833.full
  • Clinical and molecular aspects of RAS related disorders ...
    It has three isoforms of which BRAF is the most effective in activation of the ... About 7% of human cancers harbour BRAF mutations with mutations found in 70% of ...
    jmg.bmj.com/content/45/11/695.full?rss=1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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