FGFR3 K650Q - 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 K650Q

(FGFR3 Lys650Gln)


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 (57 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial ... p.K650Q. 97-29. FGFR3. p.S249C. 97-7. FGFR3. p.S249C. BFTC-905. NRAS. p.Q61L ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=16437
  • Hypochondroplasia -- GeneReviews -- NCBI Bookshelf
    FGFR3 is the only gene known to be associated with hypochondroplasia; however, genetic ... of FGFR3 exons 9, 10, 13, and 15 detects other rare FGFR3 mutations that account for ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&...
  • FGFR3 - fibroblast growth factor receptor 3
    FGFR3 mutations were detected in 37 of 65 seborrheic keratoses (57 ... in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ...
    www.ihop-net.org/UniPub/iHOP/gismo/88207.html?ORGANISM_ID=1
  • European Journal of Human Genetics - Novel FGFR3 mutations ...
    Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the ... The previously reported K650Q and N328I mutations were detected in ...
    www.nature.com/ejhg/journal/v14/n12/full/5201700a.html
  • Arch Dermatol -- Familial Acanthosis Nigricans Due to K650T ...
    Archives of Dermatology is a monthly professional medical journal published by the ... mutation at codon 650 of the FGFR3 gene in the 4 affected family members who were tested. ...
    archderm.ama-assn.org/cgi/content/full/143/9/1153
  • Highly activated Fgfr3 with the K644M mutation causes ...
    Highly activated Fgfr3 with the K644M mutation causes prolonged ... FGFR3 is a negative regulator of the bone growth as targeted disruption of the ...
    hmg.oxfordjournals.org/cgi/content/full/10/12/1255
  • Distinct Missense Mutations of the FGFR3 Lys650 Codon ...
    The fibroblast growth factor–receptor 3 (FGFR3) Lys650 codon is located within a critical ... densitometry and is as follows: K650R, 1.5#; K650N, 3.7#; K650Q, ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • share.gene.com
    ... R203C FGFR2 R496T FGFR2 S267P FGFR2 W290C FGFR3 A369A FGFR3 A391E FGFR3 E322K ... FGFR3 G370C FGFR3 G382D FGFR3 I414I FGFR3 K650E FGFR3 K650M FGFR3 K650Q FGFR3 ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • Article
    in FGFR3, corresponding to K659 of FGFR2, give rise to. different ... of FGFR2 and the pathogenic mutations of K650Q/N/M/E. of FGFR3, corresponding to K659 of FGFR2, also should ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Sequenom, Inc. - Oncogene Rare Somatic Mutations - Profiling ...
    Sequenom's Oncogene Mutation Profiling for rapid screening of somatic mutations using our proprietary oncogene panel including major oncogenes such as EGFR, BRAF, ...
    sequenom.com/getdoc/e351e956-5f99-4597-a11d-e511068f03f5/...

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in