XIAP Q423P - GET-Evidence

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

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Curation:
Currentness:

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XIAP Q423P

(XIAP Gln423Pro)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:04am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.087
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 75.14; Class C 65
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.05);
PolyPhen=benign(0.046);
Condel=deleterious(0.823)
Mutation Tasting Prediction: Polymorphism, P value: 0.969345; no protein features 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 @ chrX:123034511: 40.1% (3509/8761) in EVS
  • C @ chrX:122862191: 34.8% (32/92) in GET-Evidence
  • Frequency shown in summary reports: 40.1% (3509/8761)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chrX:123034511

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chrX:123034511

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chrX:123034511

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chrX:123034511

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chrX:123034511

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chrX:123034511

 

Added in this revision:

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chrX:123034511

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chrX:122862192

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chrX:122862192

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chrX:122862192

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chrX:122862192

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chrX:122862192

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chrX:122862192

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chrX:122862192

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chrX:122862192

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chrX:122862192

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chrX:122862192

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chrX:122862192

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chrX:122862192

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chrX:122862192

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chrX:122862192

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chrX:122862192

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chrX:122862192

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chrX:122862192

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chrX:122862192

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chrX:122862192

 

Other external references
 

    dbSNP
  • rs5956583
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the XIAP gene
    Lymphoproliferative Disease, X-Linked
    XIAP-Related Lymphoproliferative Disease, X-Linked
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/XIAP
    PolyPhen-2
  • Score: 0.053 (benign)
    Web search results (19 hits -- see all)
  • CAT.INIST
    Polymorphisms in the XIAP gene may influence XIAP production or activity, ... C (Q423P, rs5956583) in exon 6; 48162T>C (rsl7334739) and 48228C>T (rs28382739) ...
    cat.inist.fr/?aModele=exportN&cpsidt=19948198
  • Microsoft Word - content
    inhibitor of apoptosis (XIAP) gene analysis. 3. SH2D1A. 1. normal. 4. SH2D1A. 1. normal. 5. SH2D1A ... change in XIAP. XIAP: c.1268A>C, Q423P; 50% Africans have the SNP. 8 ...
    idfnz.org.nz/pub/.../files/content_ROHAN_PAPAER_OCT09.pdf
  • THE NEW ZEALAND MEDICAL JOURNAL
    inhibitor of apoptosis (XIAP) gene analysis. 3. SH2D1A. 1. normal. 4. SH2D1A. 1. normal. 5. SH2D1A ... change in XIAP. XIAP: c.1268A>C, Q423P; 50% Africans have the SNP. 8 ...
    idfnz.org.nz/.../files/Customised_testing_NZMJ_8.10.09.pdf
  • MEDLINE - Resultado página 1
    METHODS: The XIAP gene (X-linked) was sequenced in 87 patients with IPF, 46 ... RESULTS: Sequencing disclosed a 1268A>C variation that caused a Q423P amino acid substitution. ...
    bases.bireme.br/cgi-bin/wxislind.exe/...&lang=p&base=MEDLINE
  • MEDLINE - Results of the search <page 1>
    METHODS: The XIAP gene (X-linked) was sequenced in 87 patients with IPF, 46 ... RESULTS: Sequencing disclosed a 1268A>C variation that caused a Q423P amino acid substitution. ...
    bases.bireme.br/cgi-bin/wxislind.exe/...&lang=i&base=MEDLINE
  • Pubget: authors:"Umberto Dianzani" - The 423Q polymorphism of ...
    Pubget: authors:Umberto Dianzani - Sequencing disclosed a 1268A>C variation that caused a Q423P amino acid substitution. The frequency of 423Q-homozygous female patien...
    pubget.com/search?q=authors:"Umberto Dianzani"
  • Lung Cancer Risk Factors - Researchers from Kyungpook ...
    NewsRx is the leading source of news and information on Lung Cancer Risk Factors ... Polymorphisms in the XIAP gene may influence XIAP production or activity, thereby ...
    newsrx.com/newsletters/.../2008-03-06/4403062008456WW.html
  • Identification of polymorphisms in the XIAP gene and analysis ...
    Identification of polymorphisms in the XIAP gene and analysis of association with lung ... C (Q423P, rs5956583) in exon 6; 48162T>C (rsl7334739) and 48228C>T ...
    cat.inist.fr/?aModele=afficheN&cpsidt=19948198
  • Polymorphisms in the caspase-8 gene and the risk of lung cancer.
    Identification of polymorphisms in the XIAP gene and analysis of association with lung cancer risk in a Korean population. Genetic variants and haplotypes of ...
    lib.bioinfo.pl/pmid:16938569
  • A diagnostic score for molecular analysis of hereditary ...
    METHODS: The XIAP gene (X-linked) was sequenced in 87 patients with IPF, 46 ... RESULTS: Sequencing disclosed a 1268A>C variation that caused a Q423P amino acid substitution. ...
    lib.bioinfo.pl/pmid:18512793

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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