MSH2 Chromosome 2
MutS homolog 2
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What This Gene Does
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"MutS homologs|BRCA1-associated genome surveillance complex"
Locus Type
gene with protein product
Location
2p21-p16.3
Ensembl
ENSG00000095002
Associated Conditions (62)
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome
Malignant tumor of urinary bladder
Familial cancer of breast
Intestinal polyposis syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Breast and/or ovarian cancer
Colon cancer
Hereditary cancer
Breast carcinoma
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 1
Carcinoma of colon
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer
+42 more conditions
Key Variants
RS1013401625
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1
Health Risk
RS1021303606
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, MSH2-related disorder
Health Risk
RS1024743168
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1032873228
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS1038735071
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Health Risk
RS104895022
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Health Risk
RS1051194508
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Health Risk
RS1057520316
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS1057521671
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1
Health Risk
RS1057524512
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1057524722
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
Health Risk
RS1060499876
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
All Variants (2681)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1186387029 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1208014123 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Muir-Torré syndrome, Lynch syndrome 1 |
| RS1237013776 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS1249471315 | Health Risk | Pathogenic | Lynch-like syndrome, Lynch-like syndrome |
| RS1369739730 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1380847972 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1449130671 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS151244108 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1553348668 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS1553348794 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553348842 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553348882 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1553348896 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1553348898 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553348904 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1553350052 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS1553350126 | Health Risk | Pathogenic | Muir-Torré syndrome, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553350167 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553350250 | Health Risk | Pathogenic | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553350466 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553350680 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1553350721 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1553350758 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553350787 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553350789 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS1553350946 | Health Risk | Pathogenic | Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon |
| RS1553350966 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS1553351651 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553351657 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS1553351739 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553352366 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS1553352474 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553352505 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1553353205 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome 1 |
| RS1553356484 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS1553356518 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS1553356594 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553356605 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553356643 | Health Risk | Pathogenic | — |
| RS1553356678 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553356720 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1553361141 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS1553361162 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS1553361261 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553361289 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1553365711 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1553365719 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1553365799 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553366510 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1553366522 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |