FGFR3 S84L - 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:

FGFR3 S84L

(FGFR3 Ser84Leu)


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: 0.423 (possibly damaging)
    Web search results (5 hits -- see all)
  • European Journal of Human Genetics - Novel FGFR3 mutations ...
    Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the ... The S84L substitution in the first Ig loop was identified in a ...
    www.nature.com/ejhg/journal/v14/n12/full/5201700a.html
  • presenting symptom 1 micromelia [Mode de compatibilité]
    FGFR3 mutations in chondrodysplasia. • FGFR3 : 4p16. • Récepteurs à tyrosine kinase ... S84L. R200C. HCH. X807G. X807L. X807W. SADDAN. K650M. N540K. N540S. N540T. I538V ...
    www.ior.it/Allegati/d7750bb9-4e92-4804-a0f1-7f25cc1dd00b.pdf
  • ACHONDROPLASIA HYPOCHONDROPLASIA
    FGFR3 mutations: STAT pathway. activation. FGFR3: negative regulator of the bone growth. ACH ... HCH. S84L. R200C. HCH. Hypochondroplasia. Achondroplasia. Thanatophoric ...
    genetica.ior.it/Allegati/b3a7a20d-5c8e-4ecc-b086-59a05f62...
  • OMIM: 146000
    ... with presumed hypochondroplasia have demonstrable mutations in the FGFR3 gene. ... diagnoses when checked against a complete mutation search of the FGFR3 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+146000
  • OMIM: 134934
    Fgfr3 also induced complete growth arrest, whereas the delta-AB isoform induced ... of the human FGFR3 gene is nearly identical to that of the mouse Fgfr3 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+134934

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in