RAD50 Chromosome 5
RAD50 double strand break repair protein
Upload your DNA to see your personal genotypes for variants in RAD50.
What This Gene Does
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"BRCA1 C complex|MRN complex"
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000113522
Associated Conditions (25)
Hereditary cancer-predisposing syndrome
Nijmegen breakage syndrome-like disorder
Ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
RAD50-related disorder
Sarcoma
Acute myeloid leukemia
Nonpapillary renal cell carcinoma
Cervical cancer
Lymphoma
Premature ovarian insufficiency
Diffuse midline glioma
H3 K27M-mutant
Breast carcinoma
Medulloblastoma
Breast cancer
susceptibility to
Myoepithelial tumor
Breast and/or ovarian cancer
+5 more conditions
Key Variants
RS1032014108
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501948
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1085307088
Conflicting classifications of pathogenicity
Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
Health Risk
RS1156612738
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ovarian cancer, Hereditary cancer-predisposing syndrome
Health Risk
RS1164768642
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1174824621
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1193573653
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS121912629
Conflicting classifications of pathogenicity
Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
Health Risk
RS1230753352
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1232305395
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1235022794
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1275882210
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (592)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2479427969 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS2479434846 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2479435369 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2479439706 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2479439739 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS2479573777 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2479608360 | Health Risk | Likely pathogenic | Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder |
| RS2479608557 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2479617864 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2479634218 | Health Risk | Likely pathogenic | Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder |
| RS2479636921 | Health Risk | Likely pathogenic | Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder |
| RS2479643939 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2479651900 | Health Risk | Likely pathogenic | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS2479651921 | Health Risk | Likely pathogenic | Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder |
| RS2479665154 | Health Risk | Likely pathogenic | Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder |
| RS2479666526 | Health Risk | Likely pathogenic | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS2479668807 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS556830991 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587781925 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587782078 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS587782866 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS748086984 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS762648843 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, RAD50-related disorder |
| RS763432574 | Health Risk | Likely pathogenic | Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder |
| RS776909478 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786203805 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS863224738 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS863224741 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876658212 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876658784 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876659158 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876660728 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876660957 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS995265408 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS1060501923 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501941 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS1060501942 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS1060501946 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501949 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501954 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome |
| RS1060501973 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064792948 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS113018012 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1174920993 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1199799880 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1211207020 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1215181446 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS121912628 | Health Risk | Pathogenic | Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS1233081327 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1233959733 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |