chr1:11854476:T>G Detail (hg19) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,854,476-11,854,476
hg38 chr1:11,794,419-11,794,419 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.1286A>C NP_005948.3:p.Glu429Ala
Ensemble ENST00000376590.9:c.1286A>C ENST00000376590.9:p.Glu429Ala
ENST00000641407.1:c.1286A>C ENST00000641407.1:p.Glu429Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.202
ToMMo:0.197
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.215

Prediction

ClinVar

Clinical Significance Benign Likely benign; other
Review star
Show details
Links
Type Database ID Link
Gene MIM 607093 OMIM
HGNC 7436 HGNC
Ensembl ENSG00000177000 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv380367 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2008-07-01 no assertion criteria provided MTHFR THERMOLABILE POLYMORPHISM germline Detail
risk factor 2008-07-01 no assertion criteria provided Schizophrenia, susceptibility to germline Detail
no classifications from unflagged records 2023-10-30 no classifications from unflagged records gastrointestinal stromal tumor germline Detail
Benign; other 2023-11-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2019-05-28 criteria provided, single submitter Neural tube defects, folate-sensitive unknown Detail
Likely benign 2023-09-07 criteria provided, single submitter not specified germline Detail
Benign 2024-03-25 criteria provided, multiple submitters, no conflicts Homocystinuria due to methylene tetrahydrofolate reductase deficiency germline unknown Detail
Benign 2023-12-01 criteria provided, single submitter MTHFR-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 diffuse large B-cell lymphoma The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... BeFree 23829278 Detail
0.013 diffuse large B-cell lymphoma The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... BeFree 23829278 Detail
0.107 colorectal cancer Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8... BeFree 18992148 Detail
0.026 colorectal cancer Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8... BeFree 18992148 Detail
0.011 colorectal cancer Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8... BeFree 18992148 Detail
0.003 stomach carcinoma In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
0.003 Malignant neoplasm of esophagus In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
0.007 Malignant neoplasm of stomach In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
0.127 Esophageal Neoplasms In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
<0.001 esophageal carcinoma In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
0.204 rheumatoid arthritis In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... BeFree 22927710 Detail
0.032 rheumatoid arthritis In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... BeFree 22927710 Detail
0.425 rheumatoid arthritis In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... BeFree 22927710 Detail
0.360 rheumatoid arthritis In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... BeFree 22927710 Detail
<0.001 Endothelial dysfunction In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... BeFree 22927710 Detail
0.190 Alzheimer's disease In this case-control study, we examined C677T and A1298C (rs1801133 and rs180113... BeFree 22015309 Detail
0.006 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.115 Hypertensive disease Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... BeFree 24959828 Detail
0.016 colorectal cancer MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... BeFree 23626689 Detail
0.094 Diabetes Mellitus, Non-Insulin-Dependent MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high... BeFree 25074646 Detail
0.033 Esophageal Neoplasms Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... BeFree 21347786 Detail
0.042 Malignant neoplasm of esophagus Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... BeFree 21347786 Detail
0.107 colorectal cancer MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... BeFree 23626689 Detail
<0.001 Primary central nervous system lymphoma Furthermore, for the methylenetetrahydrofolate reductase (MTHFR) c.1298A &gt; C ... BeFree 20237949 Detail
0.013 stomach carcinoma Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... BeFree 21347786 Detail
0.021 breast carcinoma Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms ... BeFree 24945727 Detail
<0.001 Overweight Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... BeFree 24959828 Detail
0.003 Carcinoma of lung A review was conducted of 136 patients treated with radiation therapy for lung c... BeFree 22144047 Detail
0.239 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.002 Mental disorders Two polymorphisms of the MTHFR gene, C677T (rs1801133) and A1298C (rs1801131), w... BeFree 21819229 Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma Quantitative assessment of the association between MTHFR rs1801131 polymorphism ... BeFree 24014085 Detail
0.040 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.024 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
0.008 Huntington disease Recently, suggestive association has been reported between a single nucleotide p... BeFree 16372906 Detail
<0.001 Hypertensive disease Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... BeFree 24959828 Detail
0.011 multiple sclerosis The variant methylenetetrahydrofolate reductase c.1298A&gt;C (p.E429A) is associ... BeFree 19854238 Detail
0.120 Gastrointestinal Stromal Tumors NA CLINVAR Detail
0.019 Factor V Leiden mutation SNP in these genes showed association with venous thrombosis risk in whites: MTH... BeFree 22707612 Detail
0.003 Malignant neoplasm of liver Quantitative assessment of the association between MTHFR rs1801131 polymorphism ... BeFree 24014085 Detail
0.153 Down syndrome In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), ... BeFree 15889417 Detail
<0.001 Neoplasm, Residual Multiple Cox regression analyses revealed an association of minimal residual dis... BeFree 23652803 Detail
0.003 Congenital omphalocele In the total study population, variants in the transcobalamin receptor gene (TCb... BeFree 22116453 Detail
0.232 Precursor Cell Lymphoblastic Leukemia Lymphoma Multiple Cox regression analyses revealed an association of minimal residual dis... BeFree 23652803 Detail
0.036 Malignant neoplasm of stomach Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... BeFree 21347786 Detail
0.004 esophageal carcinoma Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... BeFree 21347786 Detail
0.135 Kidney Diseases We analyzed 821 subjects with hypertensive nephrosclerosis from the longitudinal... BeFree 21613384 Detail
0.141 bipolar disorder We investigated the effect of polymorphic variants of c.1298A&gt;C (Glu429Ala) a... BeFree 18513846 Detail
0.120 Mthfr Deficiency, Thermolabile Type NA CLINVAR Detail
0.002 colorectal carcinoma MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... BeFree 23626689 Detail
0.003 Overweight Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... BeFree 24959828 Detail
0.022 Malignant neoplasm of lung A review was conducted of 136 patients treated with radiation therapy for lung c... BeFree 22144047 Detail
0.101 Malignant neoplasm of breast Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms ... BeFree 24945727 Detail
0.016 Acute lymphocytic leukemia Multiple Cox regression analyses revealed an association of minimal residual dis... BeFree 23652803 Detail
0.026 colorectal carcinoma MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... BeFree 23626689 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high... BeFree 25074646 Detail
0.001 attention deficit hyperactivity disorder We hypothesized that ADHD related cognitive deficit could be attributed to abnor... BeFree 25079255 Detail
<0.001 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.023 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.133 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.218 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.154 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND MTHFR THERMOLABILE POLYMORPHISM ClinVar Detail
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Schizophrenia, susceptibility to ClinVar Detail
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Gastrointestinal stromal tumor ClinVar Detail
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND not provided ClinVar Detail
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Neural tube defects, folate-sensitive ClinVar Detail
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND not specified ClinVar Detail
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Homocystinuria due to methylene tetrahydrofolate redu... ClinVar Detail
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND MTHFR-related disorder ClinVar Detail
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... DisGeNET Detail
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... DisGeNET Detail
Three SNPs were shown to increase CRC risk: PTGS1 c.639C&gt;A (p.Gly213Gly), IL8 c.-352T&gt;A, and M... DisGeNET Detail
Three SNPs were shown to increase CRC risk: PTGS1 c.639C&gt;A (p.Gly213Gly), IL8 c.-352T&gt;A, and M... DisGeNET Detail
Three SNPs were shown to increase CRC risk: PTGS1 c.639C&gt;A (p.Gly213Gly), IL8 c.-352T&gt;A, and M... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... DisGeNET Detail
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... DisGeNET Detail
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... DisGeNET Detail
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... DisGeNET Detail
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... DisGeNET Detail
In this case-control study, we examined C677T and A1298C (rs1801133 and rs1801131) polymorphism in t... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... DisGeNET Detail
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... DisGeNET Detail
MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in the... DisGeNET Detail
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... DisGeNET Detail
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... DisGeNET Detail
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... DisGeNET Detail
Furthermore, for the methylenetetrahydrofolate reductase (MTHFR) c.1298A &gt; C (E429A) polymorphism... DisGeNET Detail
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... DisGeNET Detail
Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms in the MTHFR gene an... DisGeNET Detail
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... DisGeNET Detail
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
Two polymorphisms of the MTHFR gene, C677T (rs1801133) and A1298C (rs1801131), were analyzed in a sa... DisGeNET Detail
Quantitative assessment of the association between MTHFR rs1801131 polymorphism and risk of liver ca... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
Recently, suggestive association has been reported between a single nucleotide polymorphism (SNP; rs... DisGeNET Detail
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... DisGeNET Detail
The variant methylenetetrahydrofolate reductase c.1298A&gt;C (p.E429A) is associated with multiple s... DisGeNET Detail
NA DisGeNET Detail
SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.5... DisGeNET Detail
Quantitative assessment of the association between MTHFR rs1801131 polymorphism and risk of liver ca... DisGeNET Detail
In the present study, we determined polymorphisms of MTHFR A222V (677C &gt; T), MTHFR E429A (1298A &... DisGeNET Detail
Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7... DisGeNET Detail
In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8... DisGeNET Detail
Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7... DisGeNET Detail
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... DisGeNET Detail
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... DisGeNET Detail
We analyzed 821 subjects with hypertensive nephrosclerosis from the longitudinal National Institute ... DisGeNET Detail
We investigated the effect of polymorphic variants of c.1298A&gt;C (Glu429Ala) and c.677C&gt;T (Ala2... DisGeNET Detail
NA DisGeNET Detail
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... DisGeNET Detail
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... DisGeNET Detail
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... DisGeNET Detail
Association of 677 C&gt;T (rs1801133) and 1298 A&gt;C (rs1801131) polymorphisms in the MTHFR gene an... DisGeNET Detail
Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7... DisGeNET Detail
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... DisGeNET Detail
MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in the... DisGeNET Detail
We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the fola... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1801131 dbSNP
Genome
hg19
Position
chr1:11,854,476-11,854,476
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
157.73
Standard deviation of sample read depth (HGVD)
75.49
Number of reference allele (HGVD)
1930
Number of alternative allele (HGVD)
488
Allele Frequency (HGVD)
0.20181968569065342
Gene Symbol (HGVD)
MTHFR
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1801131
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.197
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3301
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
1857
East Asian Heterozygous Counts (ExAC)
1415
East Asian Homozygous Counts (ExAC)
221
East Asian Allele Frequency (ExAC)
0.21483109671448403
Chromosome Counts in All Race (ExAC)
121372
Allele Counts in All Race (ExAC)
35805
Heterozygous Counts in All Race (ExAC)
24061
Homozygous Counts in All Race (ExAC)
5872
Allele Frequency in All Race (ExAC)
0.29500214217447185
Genome browser