LIG4 T9I - GET-Evidence

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

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Curation:
Currentness:

LIG4 T9I

(LIG4 Thr9Ile)


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

  • A @ chr13:108863591: 13.0% (1382/10606) in EVS
  • A @ chr13:107661591: 14.8% (19/128) in GET-Evidence
  • Frequency shown in summary reports: 13.0% (1382/10606)

Publications
 

Roddam PL, Rollinson S, O'Driscoll M, Jeggo PA, Jack A, Morgan GJ. Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. J Med Genet. 2002 Dec;39(12):900-5. PubMed PMID: 12471202; PubMed Central PMCID: PMC1757220.

 

Liu Y, Zhou K, Zhang H, Shugart YY, Chen L, Xu Z, Zhong Y, Liu H, Jin L, Wei Q, Huang F, Lu D, Zhou L. Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma. Hum Mutat. 2008 Mar;29(3):381-9. PubMed PMID: 18165945.

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr13:108863591

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr13:108863591

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr13:108863591

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr13:108863591

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr13:108863591

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr13:108863591

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr13:108863591

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr13:107661592

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr13:107661592

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr13:107661592

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr13:107661592

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr13:107661592

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr13:107661592

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr13:107661592

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr13:107661592

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr13:107661592

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr13:107661592

 

Other external references
 

    dbSNP
  • rs1805388
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Glioma]
    This variant may be associated with risk of developing glioma.
    www.ncbi.nlm.nih.gov/pubmed/18165945
    PolyPhen-2
  • Score: 0.966 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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