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Gene entry

RAD50

RAD50 double strand break repair protein

Chromosome
5
Cytoband
5q31.1
Variants (rsID)
47

RAD50 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q31.1). Its official name is “RAD50 double strand break repair protein”. The reference table lists 47 variants (rsID) for this gene.

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Clinically classified variants

34 reference-table entries with clinical significance.

  • rs104895045Benignsingle nucleotide variantNijmegen breakage syndrome-like disorder
  • rs28903085Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs141989813Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs144253015Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs144749616Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs145843634Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs147366706Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs149577978Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs181961360Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs199579239Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder|Hereditary breast ovarian cancer syndrome
  • rs201766077Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs28903086Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs28903088Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs28903090Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs28903091Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs374561375Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs554668304Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs558302979Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs371320628Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs377260382Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs876660957Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs373428259Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs397507178PathogenicDuplicationHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder|Breast and/or ovarian cancer
  • rs587781625PathogenicDuplicationHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs587782895PathogenicDeletionHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs745797941Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs786203485Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs864622393PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs876658770Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs876659005PathogenicDuplicationHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs115706334Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs199895166Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder
  • rs201132221Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs202197835Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder

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.