chr3:37034946:G>A Detail (hg19) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,034,946-37,034,946
hg38 chr3:36,993,455-36,993,455 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001258273.1:c.-725G>A
Ensemble ENST00000536378.5:c.-725G>A
ENST00000673673.2:c.-93G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.522
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120436 OMIM
HGNC 7127 HGNC
Ensembl ENSG00000076242 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12067479 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-06 criteria provided, single submitter Colorectal cancer, hereditary nonpolyposis, type 2 germline Detail
Benign 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Benign 2014-11-18 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2024-01-19 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
Benign 2022-05-02 criteria provided, single submitter Mismatch repair cancer syndrome 1,Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2 unknown Detail
Benign 2022-05-02 criteria provided, single submitter Mismatch repair cancer syndrome 1,Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2 unknown Detail
Benign 2022-05-02 criteria provided, single submitter Mismatch repair cancer syndrome 1,Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.082 colorectal carcinoma We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in th... BeFree 23240038 Detail
0.160 colorectal cancer We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in th... BeFree 23240038 Detail
0.002 glioblastoma These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms mi... BeFree 24325908 Detail
0.082 colorectal carcinoma When candidate SNPs were examined, our data did not support most of the previous... BeFree 22294770 Detail
0.160 colorectal cancer When candidate SNPs were examined, our data did not support most of the previous... BeFree 22294770 Detail
0.010 Malignant neoplasm of endometrium We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
<0.001 Acute dermatitis Additional factors associated with an increased risk of acute dermatitis were th... BeFree 25252713 Detail
0.019 Malignant neoplasm of lung In the present case-control study, we investigated the promoter polymorphisms of... BeFree 25252909 Detail
0.002 Carcinoma of lung In the present case-control study, we investigated the promoter polymorphisms of... BeFree 25252909 Detail
0.160 colorectal cancer We previously identified an association between a mismatch repair gene, MLH1, pr... BeFree 20967208 Detail
0.014 Malignant neoplasm of lung In the present case-control study, we investigated the promoter polymorphisms of... BeFree 25252909 Detail
0.002 Carcinoma of lung In the present case-control study, we investigated the promoter polymorphisms of... BeFree 25252909 Detail
0.010 uterine corpus cancer We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
0.015 endometrial carcinoma We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
<0.001 Skin toxicity The normofractionation schedule, supine IMRT, concomitant hormone treatment and ... BeFree 25252713 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000249.3(MLH1):c.-93G>A AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND Lynch syndrome ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND not specified ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND not provided ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND multiple conditions ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND multiple conditions ClinVar Detail
NM_000249.3(MLH1):c.-93G>A AND multiple conditions ClinVar Detail
We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region a... DisGeNET Detail
We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region a... DisGeNET Detail
These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute gliob... DisGeNET Detail
When candidate SNPs were examined, our data did not support most of the previously reported associat... DisGeNET Detail
When candidate SNPs were examined, our data did not support most of the previously reported associat... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G&gt;A (r... DisGeNET Detail
Additional factors associated with an increased risk of acute dermatitis were the genetic variation ... DisGeNET Detail
In the present case-control study, we investigated the promoter polymorphisms of selected mismatch r... DisGeNET Detail
In the present case-control study, we investigated the promoter polymorphisms of selected mismatch r... DisGeNET Detail
We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs180073... DisGeNET Detail
In the present case-control study, we investigated the promoter polymorphisms of selected mismatch r... DisGeNET Detail
In the present case-control study, we investigated the promoter polymorphisms of selected mismatch r... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G&gt;A (r... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G&gt;A (r... DisGeNET Detail
The normofractionation schedule, supine IMRT, concomitant hormone treatment and patient related fact... 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
rs1800734 dbSNP
Genome
hg19
Position
chr3:37,034,946-37,034,946
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs1800734
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5222
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8752
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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