FGFR3 N540T - GET-Evidence

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

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Curation:
Currentness:

FGFR3 N540T

(FGFR3 Asn540Thr)


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: 0.999 (probably damaging)
    Web search results (30 hits -- see all)
  • Hypochondroplasia -- GeneReviews -- NCBI Bookshelf
    Abnormal gene product: The effects of the exon 13 FGFR3 mutations (N540K, N540T, and I538V) on FGFR3 function have not yet been established. ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&...
  • Clinical and radiographic features of a family with ...
    MORTIER, GEERT; NUYTINCK, LIEVE; CRAEN, MARGARITA; RENARD, JEAN-PIERRE; LEROY, JULES G; DE PAEPE, ANNE ... of the FGFR3 gene, located in the 4p16.3 region, showed a recurrent ...
    jmg.bmj.com/content/37/3/220.extract
  • Sequence survey of receptor tyrosine kinases reveals ...
    Germline Mutations at Paralogous Positions in FGFR2 and FGFR3. ... in FGFR3 to different amino acid residues have also been associated with HCH; these mutations are N540T (27) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1242336
  • Oxford Molecular Genetics Laboratory
    99% of achondroplasia patients have one of 2 mutations within FGFR3 exon 10. ... For HCH - fluorescent sequencing analysis of exons 7, 10, 13 and 15 of FGFR3 ...
    oxfordradcliffe.nhs.uk/forpatients/departments/.../ACH.pdf
  • Daters thesis
    Thesis on the subject of dwarfism,and mutative Gene structure of FGFR3 Science Genetics science
    www.scribd.com/doc/915058/Daters-thesis
  • FGFR3
    The sites frequently mutated (G380R and N540K) of the FGFR3 gene of seventeen ... The mutations at codons 380 and 540 of the FGFR3 gene were also found to be ...
    www.kslm.org/sub/down.php?Year=2001&pagee=164
  • presenting symptom 1 micromelia [Mode de compatibilité]
    FGFR3 mutations in chondrodysplasia. • FGFR3 : 4p16. • Récepteurs à tyrosine kinase ... N540T. I538V. Q485R. N328C. S351C. E360K. N328I. G380K. V381H. HCH. Legend. HCH : ...
    www.ior.it/Allegati/d7750bb9-4e92-4804-a0f1-7f25cc1dd00b.pdf
  • Diagnostic of hereditary deseases - LabGenetics
    Mutation screening of G1138A , G1138C and G375C in the FGFR3 gene ... screening of I538V, N540T, N540S, N540K, K650N, K650M, K650Q in the FGFR3 gene ...
    labgenetics.com.es/en/catalogo_enfermedades_hereditarias.htm
  • Lääketieteellinen genetiikka - Lääketieteellinen tiedekunta ...
    Fibroblastikasvutekijäreseptorigeeni 3 (FGFR3) sijaitsee kromosomin 4 lyhyessä ... osoitettu muita FGFR3-geenin mutaatioita: N328I, I538V N540S, N540T, K650N ja ...
    med.utu.fi/genetiikka/.../dna-tutkimukset/?id=98
  • Revista médica de Chile - Mutaciones del gen del receptor 3 ...
    Con el hallazgo de mutaciones en FGFR3 en pacientes con diagnóstico clínico de ... FGFR3, y en familias aisladas se han descrito las mutaciones I538V, N540T, N328I y N540S. ...
    scielo.cl/scielo.php?...&lng=pt&nrm=iso&tlng=es

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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