MSH3 Chromosome 5
MutS homolog 3
Upload your DNA to see your personal genotypes for variants in MSH3.
What This Gene Does
The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
MutS homologs
Locus Type
gene with protein product
Location
5q14.1
Ensembl
ENSG00000113318
Associated Conditions (17)
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
MSH3-related disorder
Endometrial carcinoma
Cervical cancer
Lung cancer
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Nonpapillary renal cell carcinoma
Familial cancer of breast
Hepatocellular carcinoma
Gastric cancer
Neoplasm
Malignant tumor of urinary bladder
Thyroid cancer
nonmedullary
1
Key Variants
RS1005120343
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1024354123
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS115198722
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, MSH3-related disorder
Health Risk
RS1158289237
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
Health Risk
RS1180488758
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1201188083
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1212322787
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1232782030
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1245725634
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1252609685
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1267112374
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1269791493
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
Health Risk
All Variants (653)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2112026860 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2112054145 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2112054380 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2112106462 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2112106537 | Health Risk | Pathogenic | — |
| RS2112106551 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2112106614 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2112106687 | Health Risk | Pathogenic | — |
| RS2112128589 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2112128764 | Health Risk | Pathogenic | — |
| RS2112128814 | Health Risk | Pathogenic | — |
| RS2112798603 | Health Risk | Pathogenic | — |
| RS2112808726 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2112808731 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2112808805 | Health Risk | Pathogenic | — |
| RS2112808820 | Health Risk | Pathogenic | — |
| RS2112808889 | Health Risk | Pathogenic | — |
| RS2112808916 | Health Risk | Pathogenic | — |
| RS2112809000 | Health Risk | Pathogenic | — |
| RS2112812135 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2112812231 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2112812386 | Health Risk | Pathogenic | — |
| RS2112813757 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2112813769 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2112813876 | Health Risk | Pathogenic | — |
| RS2112814246 | Health Risk | Pathogenic | — |
| RS2112816143 | Health Risk | Pathogenic | — |
| RS2112819157 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2112855504 | Health Risk | Pathogenic | — |
| RS2112855544 | Health Risk | Pathogenic | — |
| RS2112857873 | Health Risk | Pathogenic | — |
| RS2112866746 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2112866857 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, MSH3-related disorder, Familial adenomatous polyposis 4 |
| RS2112868879 | Health Risk | Pathogenic | — |
| RS2112868948 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2112868967 | Health Risk | Pathogenic | — |
| RS2112879604 | Health Risk | Pathogenic | — |
| RS2112880063 | Health Risk | Pathogenic | — |
| RS2112880076 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2112884291 | Health Risk | Pathogenic | — |
| RS2112885230 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2112885246 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2112890201 | Health Risk | Pathogenic | — |
| RS2478771380 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2478771388 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2478771441 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2478771447 | Health Risk | Pathogenic | Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2478771456 | Health Risk | Pathogenic | — |
| RS2478771460 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2478771486 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |