MRE11 Chromosome 11
MRE11 double strand break repair nuclease
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What This Gene Does
This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"BRCA1 C complex|MRN complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000020922
Associated Conditions (22)
Triple-negative breast cancer
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia-like disorder
Ataxia-telangiectasia-like disorder 1
Dystonic disorder
Dementia
Depression
Parkinsonian disorder
MRE11-related disorder
Hepatocellular carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary cancer
Malignant tumor of urinary bladder
Ovarian cancer
Premature ovarian insufficiency
Thyroid cancer
nonmedullary
1
Renal transitional cell carcinoma
Breast carcinoma
+2 more conditions
Key Variants
RS863225441
association
Triple-negative breast cancer, Triple-negative breast cancer
Health Risk
RS1001831519
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1002601808
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1028566396
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
Health Risk
RS104895016
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
Health Risk
RS1060501784
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1238614630
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1293831035
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1329286592
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS137852760
Conflicting classifications of pathogenicity
Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
Health Risk
RS137868143
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
Health Risk
RS138017560
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
Health Risk
All Variants (263)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377584386 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS531090481 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587780133 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ovarian cancer |
| RS587780135 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS587780138 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS587780145 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS587781442 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS587781676 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS587781873 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS587782099 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS587782166 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS587782669 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS587782756 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS61749249 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS73517551 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS746850084 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS748756180 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS749712745 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS751354326 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS753536984 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS756040379 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS758200451 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS758314845 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS761857022 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS762323327 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS763790530 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS766372720 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS766581183 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS767684060 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS768257868 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS772019392 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS773911334 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS774144789 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS774520952 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS775670175 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS778093337 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS786202801 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Ataxia-telangiectasia-like disorder |
| RS786203484 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS786203913 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS863224734 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS863224735 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS864622154 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS864622589 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS876659237 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS876659934 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS876660518 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS876660562 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS886048759 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS886048760 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS1185519347 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |