chr10:131565064:A>G Detail (hg19) (MGMT)

Information

Genome

Assembly Position
hg19 chr10:131,565,064-131,565,064
hg38 chr10:129,766,800-129,766,800 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002412.4:c.520A>G NP_002403.2:p.Ile174Val
Ensemble ENST00000651593.1:c.427A>G ENST00000651593.1:p.Ile143Val
ENST00000306010.8:c.520A>G ENST00000306010.8:p.Ile174Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.003
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.008

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 156569 OMIM
HGNC 7059 HGNC
Ensembl ENSG00000170430 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41120445 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 colorectal carcinoma O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and ... BeFree 16633920 Detail
0.012 colorectal cancer Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT... BeFree 16633920 Detail
0.004 colorectal carcinoma Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT... BeFree 16633920 Detail
0.021 Cancer of Head and Neck Pooling data and DNA specimens from three case-control studies in western Washin... BeFree 16030112 Detail
0.033 colorectal cancer O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and ... BeFree 16633920 Detail
0.012 Cancer of Head and Neck Pooling data and DNA specimens from three case-control studies in western Washin... BeFree 16030112 Detail
0.033 colorectal cancer Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with th... BeFree 18268114 Detail
0.014 colorectal carcinoma Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with th... BeFree 18268114 Detail
0.009 Malignant neoplasm of prostate MGMT Ile143Val polymorphism, dietary factors and the risk of breast, colorectal ... BeFree 20096652 Detail
0.001 prostate carcinoma MGMT Ile143Val polymorphism, dietary factors and the risk of breast, colorectal ... BeFree 20096652 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.008 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
Annotation

Annotations

DescrptionSourceLinks
O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal c... DisGeNET Detail
Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of c... DisGeNET Detail
Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of c... DisGeNET Detail
Pooling data and DNA specimens from three case-control studies in western Washington State, North Ca... DisGeNET Detail
O6-methylguanine-DNA methyltransferase Leu84Phe and Ile143Val polymorphisms and risk of colorectal c... DisGeNET Detail
Pooling data and DNA specimens from three case-control studies in western Washington State, North Ca... DisGeNET Detail
Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reporte... DisGeNET Detail
Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reporte... DisGeNET Detail
MGMT Ile143Val polymorphism, dietary factors and the risk of breast, colorectal and prostate cancer ... DisGeNET Detail
MGMT Ile143Val polymorphism, dietary factors and the risk of breast, colorectal and prostate cancer ... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... 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
-
Genome
hg19
Position
chr10:131,565,064-131,565,064
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
912
Mean of sample read depth (HGVD)
20.43
Standard deviation of sample read depth (HGVD)
7.92
Number of reference allele (HGVD)
1818
Number of alternative allele (HGVD)
6
Allele Frequency (HGVD)
0.003289473684210526
Gene Symbol (HGVD)
MGMT
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))
rs2308321
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
33
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8096
East Asian Allele Counts (ExAC)
66
East Asian Heterozygous Counts (ExAC)
66
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.008152173913043478
Chromosome Counts in All Race (ExAC)
110006
Allele Counts in All Race (ExAC)
10869
Heterozygous Counts in All Race (ExAC)
9669
Homozygous Counts in All Race (ExAC)
600
Allele Frequency in All Race (ExAC)
0.09880370161627548
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