rs10947089 - 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.

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Curation:
Currentness:

rs10947089


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr6:30818113: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (6/128)

Publications
 

Do TN, Ucisik-Akkaya E, Davis CF, Morrison BA, Dorak MT. TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. Cancer Genet Cytogenet. 2009 Nov;195(1):31-6. PubMed PMID: 19837266.

 

Genomes
 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:30710135

 

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr6:30818114

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:30818114

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr6:30818114

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr6:30818114

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr6:30818114

 

Other external references
 

    dbSNP
  • rs10947089
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Precursor Cell Lymphoblastic Leukemia-Lymphoma]
    Risk or phenotype-associated allele, tested allele: unspecified; multi-ethnic minor allele is G per dbSNP Phenotype: In 114 cases and 414 controls (n = 528), univariate analysis of disease association showed OR = 0.18 for heterozygote (no carriers of homozygote variant in controls), versus homozygous wild type, in ALL, with P(trend) OR = 1.23, p = 0.61 using an additive model. Study size: 528. Study population/ethnicity: Childhood acute lymphoblastic leukemia (<=14 years) and healthy newborn controls (1988 to 1999) from South Wales in the United Kingdom. Significance metric(s): Non-significant finding p = 0.61. Type of association: CO.
    www.ncbi.nlm.nih.gov/pubmed/19837266

Other in silico analyses
 

  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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