MSH2 Chromosome 2
MutS homolog 2
Upload your DNA to see your personal genotypes for variants in MSH2.
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 |
|---|---|---|---|
| RS1672947148 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome |
| RS1672951706 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Hereditary nonpolyposis colon cancer |
| RS1672953209 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1672955848 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS1672956184 | Health Risk | Pathogenic | Lynch-like syndrome, Lynch-like syndrome |
| RS1673064965 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1673066717 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1673067879 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1673070318 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS1673072429 | Health Risk | Pathogenic | Lynch-like syndrome, Lynch-like syndrome |
| RS1673074932 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Lynch syndrome 1 |
| RS1673082068 | Health Risk | Pathogenic | — |
| RS1673928022 | Health Risk | Pathogenic | Lynch-like syndrome, Lynch-like syndrome |
| RS1673931379 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1673938031 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1673950263 | Health Risk | Pathogenic | Lynch-like syndrome, Lynch-like syndrome |
| RS1673951492 | Health Risk | Pathogenic | Lynch-like syndrome, Lynch-like syndrome |
| RS1675069387 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1675074248 | Health Risk | Pathogenic | — |
| RS1675074360 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS2103751857 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS2103752001 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS2103752184 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS2103753436 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2103865151 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2103865247 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2103868483 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome 1 |
| RS2103872773 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2103974611 | Health Risk | Pathogenic | — |
| RS2103974901 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2103974925 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2103978746 | Health Risk | Pathogenic | — |
| RS2103982656 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104016448 | Health Risk | Pathogenic | Lynch syndrome, Lynch syndrome |
| RS2104016493 | Health Risk | Pathogenic | — |
| RS2104016560 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2104017390 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2104018712 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104019974 | Health Risk | Pathogenic | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2104022424 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome 1 |
| RS2104023773 | Health Risk | Pathogenic | Endometrial carcinoma, Lynch syndrome, Carcinoma of colon |
| RS2104025532 | Health Risk | Pathogenic | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104029288 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104031033 | Health Risk | Pathogenic | — |
| RS2104033787 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104035291 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104035729 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2104041341 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2104086036 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2104086603 | Health Risk | Pathogenic | Lynch syndrome 1, Lynch syndrome 1 |