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 |
|---|---|---|---|
| RS267607964 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS267607988 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS267608001 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Lynch syndrome 1, Lynch syndrome |
| RS267608020 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587779065 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Lynch-like syndrome, Hereditary cancer-predisposing syndrome |
| RS587779108 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587779148 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS587779195 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749846 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Lynch syndrome 1, Lynch syndrome |
| RS63750132 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome, Lynch syndrome 1 |
| RS63750141 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63750224 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms |
| RS63750232 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750330 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63750828 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751123 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS63751291 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS730881769 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast |
| RS753075410 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon |
| RS863224630 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS863225388 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome, Lynch syndrome 1 |
| RS863225397 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS864622183 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS864622340 | Health Risk | Pathogenic/Likely pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS876658211 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS876658223 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms |
| RS876658251 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS876659961 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS876660450 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS876660711 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS878853815 | Health Risk | Pathogenic/Likely pathogenic | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |