FGFR3 R621H - GET-Evidence

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

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Curation:
Currentness:

FGFR3 R621H

(FGFR3 Arg621His)


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: 1.0 (probably damaging)
    Web search results (30 hits -- see all)
  • REPORT A Novel Mutation in FGFR3 Causes Camptodactyly, Tall ...
    Activating mutations of FGFR3, a negative regulator of bone growth, ... p.R621H substitution may therefore interfere with the. ability of FGFR3 to transfer ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature ...
    These observations suggest that p.R621H might, instead, cause loss of FGFR3 function by a dominant negative ... p.R621H-FGFR3 might form a heterodimer with wild-type FGFR3 that ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1698566/?tool=pubmed
  • CATSHL Syndrome: Report of Three New Families and Further ...
    R. Toydemir1, M. McMillin2, P. Kezele2, S. Felscher2, D. Eunpu3, K. Aleck4, C. ... the kinase domain of the FGFR3 (p.R621H) that is predicted to result in loss of function. ...
    www.ashg.org/genetics/ashg07s/f20286.htm
  • A novel mutation in FGFR3 causes camptodactyly, tall stature ...
    Activating mutations of FGFR3, a negative regulator of bone growth, ... R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. ...
    www.ncbi.nlm.nih.gov/pubmed/17033969
  • Hearing loss in a mouse model of Muenke syndrome
    In mice, both inhibition of Fgfr3 function and excessive FGF ... putative dominant negative mutation in FGFR3, R621H, appears associated with a reversed ...
    hmg.oxfordjournals.org/cgi/reprint/18/1/43.pdf
  • Hearing loss in a mouse model of Muenke syndrome -- Mansour ...
    Fgfr3 null mice show a continuous extra row of outer hair cells in the apical 60 ... dominant negative mutation in FGFR3, R621H, appears associated with a reversed ...
    hmg.oxfordjournals.org/cgi/content/full/18/1/43
  • Selected article
    (FGFR3 promoter) 225. G375C. G369C. 44. G346E. CATSHL syndrome. p.R621H(partial loss of FGFR3 ... FGFR3/FGFR4. Cross of FGFR3 and. FGFR4 mutants. Viable. Neonatal growth ...
    bioscience.org/2008/v13/af/2890/fulltext.asp?...&doi=yes
  • AJHG - The Gene for Cherubism Maps to Chromosome 4p16.3
    A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) ... R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. ...
    www.cell.com/AJHG/abstract/S0002-9297(07)63738-0
  • bmucla Titulo: Alejandría BE 7.0.7b0
    A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (catshl) ... R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. ...
    bibmed.ucla.edu.ve/cgi-win/be_alex.exe?Titulo==A+novel+...
  • A novel mutation in FGFR3 causes camptodactyly, tall stature ...
    Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes.
    www.medscape.com/medline/abstract/17033969

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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