WNT10A G165R - GET-Evidence

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

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Curation:
Currentness:

WNT10A G165R

(WNT10A Gly165Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr2:219754822: 0.7% (79/10758) in EVS
  • A @ chr2:219463065: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.7% (79/10758)

Publications
 

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. Epub 2009 Jun 25. PubMed PMID: 19559398; PubMed Central PMCID: PMC2706962.

Reported in this publication as a probable rare polymorphism (rs77583146), “given that it was found in trans position with the considered pathogenetic mutation c.682T>A in two completely unaffected individuals in a family.”

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr2:219754822

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr2:219463066

 

Other external references
 

    dbSNP
  • rs77583146
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.871 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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