WDR36 I264V - GET-Evidence

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

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Curation:
Currentness:

WDR36 I264V

(WDR36 Ile264Val)


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

  • G @ chr5:110439509: 23.7% (2548/10748) in EVS
  • G @ chr5:110467407: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 23.7% (2548/10748)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr5:110439509

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr5:110439509

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr5:110439509

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr5:110439509

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr5:110439509

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr5:110439509

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom G @ chr5:110439509

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr5:110439509

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr5:110439509

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom G @ chr5:110439509

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr5:110439509

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr5:110439509

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr5:110439509

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr5:110439509

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr5:110439509

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr5:110439509

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr5:110439509

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr5:110439509

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr5:110439509

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr5:110439509

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr5:110467408

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr5:110467408

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr5:110467408

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr5:110467408

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr5:110467408

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr5:110467408

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr5:110467408

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr5:110467408

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr5:110467408

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr5:110467408

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr5:110467408

 

NA12878

 

Other external references
 

    dbSNP
  • rs11241095
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (45 hits -- see all)
  • Association between primary open-angle glaucoma and WDR36 DNA ...
    Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese. ... The frequency of the p.I264V variant was significantly higher in the ...
    www.ncbi.nlm.nih.gov/pubmed/17960130
  • Miyazawa, Mol Vis 2007; 13:1912-1919.
    Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese ... Thus, p.I264V might be an important part of the WDR36 domain. ...
    www.molvis.org/molvis/v13/a215
  • Distribution of WDR36 DNA Sequence Variants in Patients with ...
    WDR36 is a member of the WD40 repeat protein family and may be involved in ... the I264V common variant) indicating that abnormalities in WDR36 could ...
    www.iovs.org/cgi/content/full/47/6/2542
  • v13a215-miyazawa.hsm
    The frequency of the p.I264V variant was significantly higher in the HTG group ... Thus, p.I264V might be an important part of the \i{WDR36} domain. ...
    www.molvis.org/molvis/v13/v13a215-miyazawa.hsm
  • Analysis of WDR36 gene on Finnish glaucoma families.
    Neutral variant I264V was identified in 12/21 POAG and 3/8 XFG subjects. ... Non-synonymous common variant I264V, synonymous alterations and intronic ...
    www.ashg.org/genetics/ashg07s/f20440.htm
  • Distribution of WDR36 DNA Sequence Variants in Patients with ...
    Thirty-two WDR36 sequence variants were found in. this population of ... (excluding the I264V common. variant) indicating that abnormalities in WDR36 could contrib ...
    www.iovs.org/cgi/reprint/47/6/2542.pdf
  • HUGO HGM2007 - Presentation 63 - Genotype/phenotype ...
    In myocilin mutant carriers, 11 harbored the L25P WDR36 variant; 4, the D33E variant; 5, the H212P; 68, the I264V; 2, the A449T; and 5 harbored the D658G variants. ...
    hgm2007.hugo-international.org/.../Workshop09/hgm063.html
  • Different WDR36 mutation pattern in Chinese patients with ...
    Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma. ... Except the common I264V polymorphism, no other previously reported ...
    www.ncbi.nlm.nih.gov/pubmed/19347049?dopt=Abstract
  • Profiling of WDR36 Missense Variants in German Patients with ...
    Profiling of WDR36 Missense Variants in German Patients with Glaucoma - Ophthalmology Journal Updates - OphthalmologyWeb - The 'Eyesite' for Ophthalmologists
    ophthalmologyweb.com/JournalUpdates.aspx?spid=23&jid=15143
  • BioPortfolio - wdr36
    I264V and c.1965-30A>G) in WDR36 and their prevalence in unrelated Japanese patients with high tension glaucoma (HTG) suggest they are probably involved in ...
    www.bioportfolio.com/search/wdr36.html

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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