UMPS G213A - 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:

UMPS G213A

(UMPS Gly213Ala)


Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.37);
PolyPhen=benign(0.013);
Condel=neutral(0.289)
Mutation Tasting Prediction: Polymorphism p value: 0.013217; protein features (might be) affected (Detail: aa 2-214 REGION OPRTase gets lost)
SIFT: Affect protein function 0.03
GVGD: GV 93.77; GD 52.86; Class C0 Multi-alignment of P11172.1 uridine 5’-monophosphate synthase [Homo sapiens] with: XP_001169083.1 [Pan troglodytes] XP_001113783.1 [Macaca mulatta] NP_001126858.1 [Pongo abelii] XP_003275596.1 [Nomascus leucogenys] XP_002758771.1 [Callithrix jacchus] XP_002716466.1 [Oryctolagus cuniculus] XP_535769.2 [Canis familiaris] NP_001020573.1 [Rattus norvegicus] NP_033497.1 [Mus musculus] BAE35388.1 [Mus musculus]

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

  • C @ chr3:124456742: 16.5% (1779/10758) in EVS
  • C @ chr3:125939431: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 16.5% (1779/10758)

Publications
 

Ichikawa W, Takahashi T, Suto K, Sasaki Y, Hirayama R. Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen. Clin Cancer Res. 2006 Jul 1;12(13):3928-34. PubMed PMID: 16818689.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr3:124456742

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr3:124456742

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr3:124456742

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr3:124456742

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr3:124456742

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr3:124456742

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr3:124456742

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr3:124456742

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr3:124456742

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr3:124456742

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr3:124456742

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr3:124456742

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr3:124456742

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr3:124456742

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr3:125939432

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr3:125939432

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr3:125939432

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr3:125939432

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr3:125939432

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr3:125939432

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr3:125939432

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr3:125939432

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr3:125939432

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr3:125939432

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr3:125939432

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr3:125939432

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr3:125939432

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr3:125939432

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr3:125939432

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr3:125939432

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr3:125939432

 

Other external references
 

    dbSNP
  • rs1801019
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Diarrhea; Neutropenia]
    [fluorouracil]
    The Ala (C) allele of this SNP is associated with grade 3 to 4 neutropenia and diarrhea and is an independent predictor of diarrhea in patients with colorectal neoplasms.
    www.ncbi.nlm.nih.gov/pubmed/16818689
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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