TYMP S471L - GET-Evidence

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

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Curation:
Currentness:

TYMP S471L

(TYMP Ser471Leu)


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

  • A @ chr22:50964236: 6.9% (704/10240) in EVS
  • A @ chr22:49311101: 5.3% (2/38) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (704/10240)

Publications
 

Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000 Jun;47(6):792-800. PubMed PMID: 10852545.

 

López LC, Akman HO, García-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet. 2009 Feb 15;18(4):714-22. Epub 2008 Nov 21. PubMed PMID: 19028666; PubMed Central PMCID: PMC2638828.

Disruption of TYMP causes Mitochondrial Neurogastrointestinal Encephalopathy Disease in a mouse model. The S471L variant is unlikely to be causative given the frequency of this variant in 1000 genomes.

Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. Epub 2009 Sep 11. Review. PubMed PMID: 19748572.

 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr22:50964236

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr22:50964236

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr22:50964236

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr22:50964236

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr22:50964236

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr22:50964236

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr22:50964236

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr22:50964236

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr22:49311102

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr22:49311102

 

Other external references
 

    dbSNP
  • rs11479
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.961 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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