ERCC5 M254V - 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:

ERCC5 M254V

(ERCC5 Met254Val)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (8 hits -- see all)
  • Genetic variation in the nucleotide excision repair pathway ...
    García-Closas M, Malats N, Real FX, Welch R, Kogevinas M, Chatterjee N, Pfeiffer R, ... 1.5; P = 0.06; P(trend) = 0.04), and ERCC5 M254V (OR, 1.4; 95% CI, 1.0-2.0; P = 0.04) ...
    www.ncbi.nlm.nih.gov/pubmed/16537713
  • Pfeiffer, R (Ruth)
    Pfeiffer, R (Ruth) :: Pooled analysis and meta-analysis of glutathione S-transferase M1 ... 1.5; P = 0.06; P(trend)= 0.04), and ERCC5 M254V (OR, 1.4; 95% CI, 1.0-2.0; P = 0.04) ...
    lib.bioinfo.pl/auid:45788
  • Welch, R (Robert)
    Welch, R (Robert) :: Oxidative damage-related genes AKR1C3 and OGG1 modulate risks for lung cancer due to exposure to PAH-rich coal combustion emissions. ...
    lib.bioinfo.pl/auid:11064
  • DCEG Linkage: July 2006
    Physical Activity– Breast Cancer Link. Visiting Scholar Valerie Beral ... seven NER genes (XPC, RAD23B, ERCC1, ERCC2, ERCC4, ERCC5, and ERCC6) ...
    dceg.cancer.gov/newsletter/Linkage0706.html
  • NUCELOTIDE EXCISION REPAIR AND PROSTATE CANCER RISK
    The endonucleases ERCC5/XPG and ERCC1/XPF then make the 3' and 5' ... M254V. S311C. C529S. E627A. L670F. D1104H. 4150295. 1047769. 2307491. 2227869. 2227870. 1803542 ...
    www1.elsevier.com/homepage/sab/oncoserve/cl_mr/hu.pdf
  • Linkage
    be well poised to utilize the emerging molecular technologies and powerful new ... of DCEG and other NIH investigators and local colleagues from academia, recent ...
    dceg.cancer.gov/newsletter/Linkage0706.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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