FGFR3 R248C - GET-Evidence

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

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Curation:
Currentness:

FGFR3 R248C

(FGFR3 Arg248Cys)


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 (338 hits -- see all)
  • Reduced binding of FGF1 to mutant fibroblast growth factor ...
    The activating mutation FGFR3-R248C in the D2-D3 linker region of ... We introduced into the murine FGFR3 the mutation R242C that is orthologoues to the human mutation R248C. ...
    www.ncbi.nlm.nih.gov/pubmed/16801131
  • Yale Center for X-Linked Hypophosphatemia
    ... a postzygotic mutation of the FGFR3 gene, we hypothesize that cells ... tissues that harbor the FGFR3-R248C mutant receptor will contribute to an improved understanding of the ...
    ycxlh.yale.edu/pilot.html
  • Somatic and germline mosaicism for a R248C missense mutation ...
    Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Auteur(s) / Author(s) ...
    cat.inist.fr/?aModele=afficheN&cpsidt=14939498
  • 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
  • Thanatophoric Dysplasia
    Somatic mosaicism that included the germline mutation in FGFR3 (R248C) has been ... Somatic and germline mosaicism for a mutation in FGFR3 (R248C) has been reported ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • PLoS ONE: Analysis of STAT1 Activation by Six FGFR3 Mutants ...
    In contrast, we found a weak STAT1(Y701) activation in HeLa cells transfected with wild-type FGFR3 as well as with the G380R, R248C and Y373C mutants (Fig. 2) ...
    plosone.org/article/info:doi/10.1371/journal.pone.0003961
  • Catalogue of Somatic Mutations in Cancer
    FGFR3. p.R248C. E22502. FGFR3. p.R248C. E22503. FGFR3. p.R248C. E22504. FGFR3. p.R248C. E22505. FGFR3 ... p.R248C. E22507. FGFR3. p.R248C. E22508. FGFR3. p.R248C. E22509. FGFR3 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=7891
  • Thanatophoric Dysplasia: eMedicine Pediatrics: Genetics and ...
    Overview: Thanatophoric dysplasia (TD) is the most common form of skeletal dysplasia that ... that affect distinct domains of FGFR3 cause the thanatophoric dysplasia subtypes: ...
    emedicine.medscape.com/article/949591-overview
  • Sensitive Allele-Specific PCR Assay Able to Detect FGFR3 ...
    Given the high frequency of FGFR3 mutations and the possible implication of this ... Ten pairs of samples had an FGFR3 mutation (1 with R248C, 6 with S249C, 2 with S373C, and ...
    www.clinchem.org/cgi/content/full/51/8/1555
  • Missense FGFR3 mutations create cysteine residues in ...
    Figure 2.Histological aspect of tibial cartilage growth plate from three TD1 fetuses carrying different FGFR3 mutations: (a) Y373C; (b) R248C; (c) J807G. ...
    hmg.oxfordjournals.org/cgi/content/full/5/4/509

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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