MLH1 Chromosome 3
MutL homolog 1
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What This Gene Does
The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"MutL homologs|BRCA1-associated genome surveillance complex"
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000076242
Associated Conditions (53)
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer
hereditary nonpolyposis
type 2
Carcinoma of colon
Breast and/or ovarian cancer
MLH1-related disorder
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer
Uterine corpus endometrial carcinoma
Malignant tumor of breast
Ovarian cancer
Mismatch repair cancer syndrome 1
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant lymphoma
large B-cell
diffuse
+33 more conditions
Key Variants
RS1036438114
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS104894994
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1057520517
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, MLH1-related disorder
Health Risk
RS1057521233
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
Health Risk
RS1057521607
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon
Health Risk
RS1057522127
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
Health Risk
RS1057523910
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
Health Risk
RS1060500694
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1060500695
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer
Health Risk
RS1060503999
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis
Health Risk
RS1060504002
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1060504010
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Muir-Torré syndrome
Health Risk
All Variants (1866)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS63751465 | Health Risk | Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751608 | Health Risk | Likely pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751616 | Health Risk | Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63751632 | Health Risk | Likely pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS63751691 | Health Risk | Likely pathogenic | Lynch syndrome, Lynch syndrome |
| RS63751711 | Health Risk | Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS72481822 | Health Risk | Likely pathogenic | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS770919400 | Health Risk | Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS781755529 | Health Risk | Likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS786202326 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876658657 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS876658962 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS977932120 | Health Risk | Likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS1057517541 | Health Risk | Pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS1057517543 | Health Risk | Pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS1057520627 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060500687 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1060500688 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1060500689 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1060500692 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1060500698 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS1060500699 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1060500703 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis |
| RS1060500706 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis |
| RS1060500707 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis |
| RS1064792918 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1064793172 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis |
| RS1064793173 | Health Risk | Pathogenic | — |
| RS1064793177 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1064793469 | Health Risk | Pathogenic | — |
| RS1064793607 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis |
| RS1064793823 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1064794122 | Health Risk | Pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS1064794267 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1064794353 | Health Risk | Pathogenic | — |
| RS1064794373 | Health Risk | Pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS1064794612 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1064795515 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis |
| RS1064796057 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS111052004 | Health Risk | Pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1114167435 | Health Risk | Pathogenic | Colon cancer, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS11541859 | Health Risk | Pathogenic | Lynch syndrome, Colorectal cancer, hereditary nonpolyposis |
| RS1212620164 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS121912965 | Health Risk | Pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS1248251121 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis |
| RS1253275403 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1297411024 | Health Risk | Pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 |
| RS1302248679 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1416171624 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch-like syndrome |
| RS1434898623 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colon cancer |