FGFR3 D513N - GET-Evidence

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

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Curation:
Currentness:

FGFR3 D513N

(FGFR3 Asp513Asn)


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
    OMIM
  • Ladd syndrome
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934
    PolyPhen-2
  • Score: 0.004 (benign)
    Web search results (5 hits -- see all)
  • Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced ...
    Likewise, activating mutations in FGFR3 were mapped to the transmembrane and the ... and a single mutation was found in the tyrosine kinase domain of FGFR3 (D513N) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2099236/?tool=pubmed
  • Thanatophoric Dysplasia
    Sequence analysis of select regions of FGFR3 previously reported to contain ... FGFR3 mutation D513N has been reported in one family with this ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • OMIM: 149730
    The detection of mutations in the FGFR3 (134934) and FGF10 (602115) genes in ... detected a mutation in the FGFR3 gene predicting a D513N amino acid substitution in the ...
    www.genome.jp/dbget-bin/www_bget?omim+149730
  • 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 = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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