FGFR3 P250R - GET-Evidence

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

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Curation:
Currentness:

FGFR3 P250R

(FGFR3 Pro250Arg)


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
 

    GeneTests
  • GeneTests records for the FGFR3 gene
    Achondroplasia
    Crouzon Syndrome with Acanthosis Nigricans
    FGFR-Related Craniosynostosis
    FGFR3-Related Craniosynostosis
    FGFR3-Related Isolated Coronal Synostosis
    Hypochondroplasia
    Lacrimo-Auriculo-Dento-Digital Syndrome
    Muenke Syndrome
    Severe Achondroplasia with Developmental Delay and Acanthosis Ni
    Thanatophoric Dysplasia
    Thanatophoric Dysplasia Type I
    Thanatophoric Dysplasia Type II
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR3
    PolyPhen-2
  • Score: 0.828 (possibly damaging)
    Web search results (350 hits -- see all)
  • FGFR3 P250R mutation increases the risk of reoperation in ...
    FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. ... Heterozygosity for the FGFR3 Pro250Arg mutation, present in 29 ...
    www.ncbi.nlm.nih.gov/pubmed/15915095
  • Muenke Syndrome -- GeneReviews -- NCBI Bookshelf
    Testing for the P250R mutation in the FGFR3 gene is available on ... Some FGFR3 P250R heterozygotes have no clinical or radiographic features of Muenke ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=muenke
  • Microsoft Word - sids mutation
    P250R mutation in the FGFR3 gene also known as Muenke syndrome is. associated with coronal craniosynostosis, sensorineural deafness, craniofacial, ...
    www.sidsalliance.org/research/sids mutation.pdf
  • Integrated Strategy for Fast and Automated Molecular ...
    FGFR3 exon 7 (where the P250R mutation is located) could not be included in the ... FGFR3 exon 7 amplicon for the P250R mutation; the. duplex PCR for ...
    www.clinchem.org/cgi/reprint/53/10/1767.pdf
  • WikiGenes - FGFR3 - fibroblast growth factor receptor 3
    The world's first wiki where authorship really matters. Due credit and reputation for ... FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' ...
    www.wikigenes.org/e/gene/e/2261.html
  • Integrated Strategy for Fast and Automated Molecular ...
    Most FGFR2 and FGFR3 mutations occur in sequences encoding the 3rd extracellular ... FGFR3 exon 7 (where the P250R mutation is located) could not be included in the ...
    www.clinchem.org/cgi/content/full/53/10/1767
  • FGFR3 - fibroblast growth factor receptor 3
    Sudden infant death in a patient with FGFR3 P250R mutation. ... FGFR3 mutations were detected in 37 of 65 seborrheic keratoses (57%). Paper-13344877. ...
    www.ihop-net.org/UniPub/iHOP/gismo/88207.html?ORGANISM_ID=1
  • [Frontiers in Bioscience 10, 1961-1976, May 1, 2005]
    FGFR3/IgIIIa: P250R. Abnormalities of hands and feet (thimble-like ... FGFR3/IgIIIa: P250R. Short fingers and soft-tissue syndactyly (due to increase expression ...
    www.bioscience.org/2005/v10/af/1671/tables.htm
  • FGFR3 - fibroblast growth factor receptor 3 - Genetics Home ...
    What is the official name of the FGFR3 gene? The official name of this gene is " ... The FGFR3 protein spans the cell membrane, so that one end of the protein ...
    ghr.nlm.nih.gov/gene=fgfr3
  • Sex related expressivity of the phenotype in coronal ...
    A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal ...
    www.medscape.com/medline/abstract/9950359

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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