GLI3 T183A - GET-Evidence

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

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Curation:
Currentness:

GLI3 T183A

(GLI3 Thr183Ala)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 58.02; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting Prediction: Polymorphism, P value: 0.999980; protein features (might be) affected.

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

  • C @ chr7:42088222: 66.6% (7160/10758) in EVS
  • C @ chr7:42054746: 56.7% (68/120) in GET-Evidence
  • Frequency shown in summary reports: 66.6% (7160/10758)

Publications
 

Garcia-Barceló MM, Chi-Hang Lui V, Miao X, So MT, Yuk-yu Leon T, Yuan ZW, Li L, Liu L, Wang B, Sun XB, Huang LM, Tou JF, Sau-wai Ngan E, Cherny SS, Chan KW, Lee KH, Wang W, Kak-yuen Wong K, Kwong-hang Tam P. Mutational analysis of SHH and GLI3 in anorectal malformations. Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):644-8. PubMed PMID: 18655123.

benign

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr7:42088222

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr7:42088222

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr7:42088222

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr7:42088222

 

 

 

 

 

 

 

 

 

 

 

 

huC30901

 

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr7:42054747

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr7:42054747

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr7:42054747

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr7:42054747

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr7:42054747

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr7:42054747

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr7:42054747

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr7:42054747

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr7:42054747

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr7:42054747

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr7:42054747

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr7:42054747

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr7:42054747

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr7:42054747

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr7:42054747

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr7:42054747

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr7:42054747

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr7:42054747

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr7:42054747

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr7:42054747

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr7:42054747

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr7:42054747

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr7:42054747

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr7:42054747

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr7:42054747

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr7:42054747

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr7:42054747

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr7:42054747

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr7:42054747

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr7:42054747

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr7:42054747

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr7:42054747

 

Other external references
 

    dbSNP
  • rs846266
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the GLI3 gene
    GLI3-Related Disorders
    Greig Cephalopolysyndactyly Syndrome
    Pallister-Hall Syndrome
    Postaxial Polydactyly Type A
    Preaxial Polydactyly Type IV
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLI3
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (6 hits -- see all)
  • SHH - sonic hedgehog homolog (Drosophila)
    The GLI3 protein is another negative regulator of SHH signaling. ... RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8 ...
    www.ihop-net.org/UniPub/iHOP/gs/92150.html
  • ISI Export Format
    SEROTONIN REUPTAKE INHIBITORS; CULTURED ASTROCYTES; TYROSINE KINASE; ... Fluoxetine has relatively high affinity for Gq/11 protein-coupled 5-HT2 receptors. ...
    library.cmu.edu.cn/scie-ei/savedrecs2008.html
  • EurekaMag: Top > Research > Chapter 12275
    Loss of Gli3 enhances the viability of embryonic telencephalic cells ... Loss of glycosylation associated with the T183A mutation in human prion disease. Loss of growth hormone ...
    eurekamag.com/research/012/274
  • Pubget: authors:"Maria-Mercè Garcia-Barceló" - MNX1 (HLXB9 ...
    PURPOSE: The combination of partial absence of the sacrum, anorectal anomalies, and ... GLI3 in anorectal malformations. We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4 ...
    pubget.com/search?q=authors:"Maria-Merc%C3%A8+...
  • Pubget: authors:"Stacey S Cherny"
    Chromosome 3p was reported by previous studies as one of the regions showing strong ... GLI3 in anorectal malformations. We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4 ...
    pubget.com/search?q=authors:"Stacey S Cherny"

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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