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Gene entry

NBN

nibrin

Chromosome
8
Cytoband
8q21.3
Variants (rsID)
60

NBN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q21.3). Its official name is “nibrin”. The reference table lists 60 variants (rsID) for this gene.

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Clinically classified variants

56 reference-table entries with clinical significance.

  • rs13312984Benignsingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency
  • rs190843577Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs72563785Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Hereditary breast ovarian cancer syndrome
  • rs769420Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Hereditary breast ovarian cancer syndrome
  • rs104895032Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Familial cancer of breast|Malignant tumor of breast
  • rs12721593Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Malignant tumor of breast
  • rs141137543Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Hereditary breast ovarian cancer syndrome
  • rs142334798Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Malignant tumor of breast
  • rs146605798Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs146989944Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs147626427Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs200287925Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs200297914Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Malignant tumor of prostate|Aplastic anemia|Malignant tumor of breast
  • rs200891292Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs201816949Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Malignant tumor of breast
  • rs28538230Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia|Malignant tumor of breast
  • rs34767364Conflicting interpretationssingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs369408590Conflicting interpretationssingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs375862750Conflicting interpretationssingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs543852763Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Hereditary breast ovarian cancer syndrome
  • rs587781326Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs587782290Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs61753720Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs61754796Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Malignant tumor of breast
  • rs61754966Conflicting interpretationssingle nucleotide variantAplastic anemia|Leukemia, acute lymphoblastic, susceptibility to|Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Hereditary breast ovarian cancer syndrome|Breast carcinoma|Carcinoma of colon
  • rs61754967Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs746994234Conflicting interpretationssingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs756363734Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs764356392Conflicting interpretationssingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs775244752Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs886063169Conflicting interpretationssingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs1057517262Likely pathogenicsingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs142301194Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs574673404Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Breast-ovarian cancer, familial, susceptibility to, 1|Breast and/or ovarian cancer
  • rs730881850Likely pathogenicsingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency
  • rs864622090Likely pathogenicsingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Aplastic anemia
  • rs1060503483PathogenicDuplicationMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs121908973Pathogenicsingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs121908974Pathogenicsingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs587780100PathogenicDeletionHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Malignant tumor of breast
  • rs587781305PathogenicDeletionHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs587781718PathogenicDeletionHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs587781891PathogenicDeletionHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs587781969PathogenicDeletionMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs587782130Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs730881839PathogenicDuplicationHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs767215758Pathogenicsingle nucleotide variantMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Acute lymphoid leukemia|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia
  • rs767454740PathogenicDeletionMicrocephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|See cases
  • rs786201745Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs786202490PathogenicMicrosatelliteHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs864622253PathogenicMicrosatelliteMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Lymphoma|Familial cancer of breast|Prostate cancer susceptibility
  • rs864622511PathogenicDeletionMicrocephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome
  • rs876659521Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs185493105Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs186371605Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
  • rs78870221Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.