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.
Please help improve GET-Evidence by evaluating evidence for this variant!
(MTHFR Ala222Val)
Short summary
this is a.k.a. C677T and Rs1801133. Modulates toxicity of methotrexate in patients.
PolyPhen: Probably damaging0.970 SIFT: Affect protein function 0.00 GVGD: GV 0.00; GD 65.28; Class C65 Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.05); PolyPhen=possibly_damaging(0.235); Condel=deleterious(0.796) Mutation Tasting Prediction: Polymorphism, P value: 0.001681; no protein features affected.
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
The document has moved here.
Chiusolo P, Reddiconto G, Casorelli I, Laurenti L, Sorà F, Mele L, Annino L, Leone G, Sica S. Preponderance of methylenetetrahydrofolate reductase C677T homozygosity among leukemia patients intolerant to methotrexate. Ann Oncol. 2002 Dec;13(12):1915-8. PubMed PMID: 12453860.
Kishi S, Griener J, Cheng C, Das S, Cook EH, Pei D, Hudson M, Rubnitz J, Sandlund JT, Pui CH, Relling MV. Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia. J Clin Oncol. 2003 Aug 15;21(16):3084-91. PubMed PMID: 12915598.
Gemmati D, Ongaro A, Tognazzo S, Catozzi L, Federici F, Mauro E, Della Porta M, Campioni D, Bardi A, Gilli G, Pellati A, Caruso A, Scapoli GL, De Mattei M. Methylenetetrahydrofolate reductase C677T and A1298C gene variants in adult non-Hodgkin's lymphoma patients: association with toxicity and survival. Haematologica. 2007 Apr;92(4):478-85. PubMed PMID: 17488658.
Boccia S, Hung R, Ricciardi G, Gianfagna F, Ebert MP, Fang JY, Gao CM, Götze T, Graziano F, Lacasaña-Navarro M, Lin D, López-Carrillo L, Qiao YL, Shen H, Stolzenberg-Solomon R, Takezaki T, Weng YR, Zhang FF, van Duijn CM, Boffetta P, Taioli E. Meta- and pooled analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a huge-GSEC review. Am J Epidemiol. 2008 Mar 1;167(5):505-16. Epub 2007 Dec 27. PubMed PMID: 18162478.
hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261 het A @ chr1:11856378
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 het A @ chr1:11856378
hu04FD18 - CGI sample GS00253-DNA_F01_200_37 het A @ chr1:11856378
hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants het A @ chr1:11778965
hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565 het A @ chr1:11856378
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants hom A @ chr1:11778965
hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome het A @ chr1:11856378
hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424 het A @ chr1:11856378
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 het A @ chr1:11856378
hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272 het A @ chr1:11856378
hu43860C - CGI sample GS00253-DNA_A01_200_37 het A @ chr1:11856378
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372 hom A @ chr1:11856378
hu604D39 - CGI sample GS00253-DNA_B02_200_37 het A @ chr1:11856378
hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532 hom A @ chr1:11856378
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants het A @ chr1:11778965
hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372 het A @ chr1:11856378
hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046 het A @ chr1:11856378
hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586 het A @ chr1:11856378
hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426 het A @ chr1:11856378
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107 het A @ chr1:11856378
huAE6220 - CGI sample GS00253-DNA_H01_200_37 het A @ chr1:11856378
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 het A @ chr1:11856378
huBEDA0B - CGI sample GS00253-DNA_C01_200_37 het A @ chr1:11856378
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 hom A @ chr1:11856378
huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604 het A @ chr1:11856378
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191 het A @ chr1:11856378
huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581 het A @ chr1:11856378
GS07357 - var-GS07357-1100-36-ASM het A @ chr1:11778965
GS10851 - var-GS10851-1100-36-ASM het A @ chr1:11778965
GS18505 - var-GS18505-1100-36-ASM het A @ chr1:11778965
GS18508 - var-GS18508-1100-36-ASM het A @ chr1:11778965
GS18555 - var-GS18555-1100-36-ASM het A @ chr1:11778965
GS18558 - var-GS18558-1100-36-ASM het A @ chr1:11778965
GS18940 - var-GS18940-1100-36-ASM het A @ chr1:11778965
GS18956 - var-GS18956-1100-36-ASM het A @ chr1:11778965
GS19648 - var-GS19648-1100-36-ASM het A @ chr1:11778965
GS19670 - var-GS19670-1100-36-ASM het A @ chr1:11778965
GS19701 - var-GS19701-1100-36-ASM het A @ chr1:11778965
GS19735 - var-GS19735-1100-36-ASM het A @ chr1:11778965
GS20502 - var-GS20502-1100-36-ASM het A @ chr1:11778965
GS20509 - var-GS20509-1100-36-ASM het A @ chr1:11778965