WNT10A G165R - 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!


WNT10A G165R

(WNT10A Gly165Arg)

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)


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.”


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

  • rs77583146
  • Score: 0.871 (probably damaging)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in