NBN Chromosome 8
Nibrin
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What This Gene Does
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"BRCA1 C complex|MRN complex"
Locus Type
gene with protein product
Location
8q21.3
Ensembl
ENSG00000104320
Associated Conditions (44)
Microcephaly
normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Acute lymphoid leukemia
Familial cancer of breast
Malignant tumor of breast
NBN-related disorder
Hereditary cancer
Hereditary breast ovarian cancer syndrome
Thyroid cancer
nonmedullary
1
Ovarian cancer
Breast-ovarian cancer
familial
susceptibility to
Hepatocellular carcinoma
Familial ovarian cancer
Gastric cancer
+24 more conditions
Key Variants
RS104895030
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS104895032
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS104895033
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1060503462
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503478
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504925
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1060504926
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS1064793477
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1178683426
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS1199013619
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1203807404
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS1213870507
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
All Variants (676)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1455928001 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554555782 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1554556454 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency |
| RS1554558449 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia |
| RS1554559373 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Acute lymphoid leukemia |
| RS1554560352 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Thyroid cancer |
| RS1554560523 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1554562083 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome |
| RS1554564205 | Health Risk | Likely pathogenic | — |
| RS1554564309 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1554567847 | Health Risk | Likely pathogenic | — |
| RS1554567902 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1554567960 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1554568344 | Health Risk | Likely pathogenic | — |
| RS1563497529 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome |
| RS1563539146 | Health Risk | Likely pathogenic | Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency |
| RS1563581276 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS1586024147 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency |
| RS1586052622 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1586075690 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency |
| RS1586075907 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia |
| RS1586076299 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency |
| RS1586088347 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1586088924 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency |
| RS1810031465 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS1810033982 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS1810267412 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome |
| RS1811497703 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia |
| RS1811862598 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency |
| RS1812140936 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2129659522 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2129695663 | Health Risk | Likely pathogenic | Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome, Microcephaly |
| RS2129704501 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2129716262 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome |
| RS2129747101 | Health Risk | Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS2129747182 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2129908974 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2129914127 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2129916685 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome |
| RS2130739402 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2130755261 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2130755422 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2130755457 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2130755572 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2130755717 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2130755743 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2488190937 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2488190993 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2488191378 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |
| RS2488201562 | Health Risk | Likely pathogenic | Microcephaly, normal intelligence and immunodeficiency, Microcephaly |