chr3:37012077:A>G Detail (hg38) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,053,568-37,053,568 View the variant detail on this assembly version. |
hg38 | chr3:37,012,077-37,012,077 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.655A>G | NP_000240.1:p.Ile219Val |
NM_001167617.1:c.361A>G | NP_001161089.1:p.Ile121Val | |
NM_001167618.1:c.-69A>G |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.056 |
ToMMo:0.050 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.022 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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2023-11-30 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2014-06-24 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2020-01-10 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2017-08-18 | criteria provided, single submitter | Lynch syndrome 1 |
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Detail |
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2023-07-07 | criteria provided, multiple submitters, no conflicts | Colorectal cancer, hereditary nonpolyposis, type 2 |
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Detail |
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2024-02-01 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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no assertion criteria provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.085 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.008 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.015 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.011 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.002 | adenoma | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.009 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.019 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.001 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.004 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
<0.001 | polyps | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
0.018 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
<0.001 | Hyperplastic Polyp | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
0.023 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.013 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
0.013 | polyps | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
0.098 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
<0.001 | Polyp of large intestine | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
0.015 | Malignant neoplasm of ovary | When the analyses were restricted to serous type ovarian cancer, two SNPs showed... | BeFree | 18723338 | Detail |
<0.001 | Hereditary pancreatitis | Second, the samples from Finnish hereditary prostate cancer (HPC) families were ... | BeFree | 16963262 | Detail |
0.329 | Hereditary Nonpolyposis Colorectal Cancer | Evaluation of MLH1 I219V polymorphism in unrelated South American individuals su... | BeFree | 23060557 | Detail |
0.329 | Hereditary Nonpolyposis Colorectal Cancer | The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs be... | BeFree | 16982745 | Detail |
0.012 | ulcerative colitis | Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulce... | BeFree | 18200512 | Detail |
0.020 | colon carcinoma | Statistically significant interactions were observed between: MLH1 -93G>A and... | BeFree | 18523027 | Detail |
0.332 | Hereditary Nonpolyposis Colorectal Cancer | To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South ... | BeFree | 23060557 | Detail |
0.003 | Malignant neoplasm of ovary | When the analyses were restricted to serous type ovarian cancer, two SNPs showed... | BeFree | 18723338 | Detail |
0.002 | ovarian carcinoma | When the analyses were restricted to serous type ovarian cancer, two SNPs showed... | BeFree | 18723338 | Detail |
0.010 | ovarian carcinoma | When the analyses were restricted to serous type ovarian cancer, two SNPs showed... | BeFree | 18723338 | Detail |
0.012 | ulcerative colitis | I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis. | BeFree | 19371218 | Detail |
0.005 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.059 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
<0.001 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.022 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
<0.001 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.008 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.021 | breast carcinoma | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
0.019 | Malignant neoplasm of breast | We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... | BeFree | 23755158 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND not provided | ClinVar | Detail |
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND not specified | ClinVar | Detail |
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND Lynch syndrome 1 | ClinVar | Detail |
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) AND Malignant tumor of breast | ClinVar | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... | DisGeNET | Detail |
Second, the samples from Finnish hereditary prostate cancer (HPC) families were used for the screeni... | DisGeNET | Detail |
Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Ly... | DisGeNET | Detail |
The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously... | DisGeNET | Detail |
Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis. | DisGeNET | Detail |
Statistically significant interactions were observed between: MLH1 -93G>A and smoking (MSI-negati... | DisGeNET | Detail |
To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals... | DisGeNET | Detail |
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... | DisGeNET | Detail |
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... | DisGeNET | Detail |
When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significan... | DisGeNET | Detail |
I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis. | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | DisGeNET | Detail |
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... | 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
- rs1799977 dbSNP
- Genome
- hg38
- Position
- chr3:37,012,077-37,012,077
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1191
- Mean of sample read depth (HGVD)
- 36.30
- Standard deviation of sample read depth (HGVD)
- 21.08
- Number of reference allele (HGVD)
- 2248
- Number of alternative allele (HGVD)
- 134
- Allele Frequency (HGVD)
- 0.056255247691015954
- Gene Symbol (HGVD)
- MLH1
- 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))
- rs1799977
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0504
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 845
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 191
- East Asian Heterozygous Counts (ExAC)
- 187
- East Asian Homozygous Counts (ExAC)
- 2
- East Asian Allele Frequency (ExAC)
- 0.02208092485549133
- Chromosome Counts in All Race (ExAC)
- 121236
- Allele Counts in All Race (ExAC)
- 28192
- Heterozygous Counts in All Race (ExAC)
- 20186
- Homozygous Counts in All Race (ExAC)
- 4003
- Allele Frequency in All Race (ExAC)
- 0.2325381899765746
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