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Gene entry

BRIP1

BRCA1 interacting DNA helicase 1

Chromosome
17
Cytoband
17q23.2
Variants (rsID)
74

BRIP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q23.2). Its official name is “BRCA1 interacting DNA helicase 1”. The reference table lists 74 variants (rsID) for this gene.

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Clinically classified variants

56 reference-table entries with clinical significance.

  • rs116952709Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Carcinoma of colon
  • rs202228407Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast
  • rs45501097Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome
  • rs4986763Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs4986765Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs4988340Benignsingle nucleotide variantFanconi anemia complementation group J
  • rs61754141Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Malignant tumor of breast
  • rs113052745Conflicting interpretationssingle nucleotide variantFanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Fanconi anemia complementation group J
  • rs113697814Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J
  • rs137852986Conflicting interpretationssingle nucleotide variantFanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia|Breast neoplasm|Neoplasm of ovary|Familial cancer of breast|Tracheoesophageal fistula|Fanconi anemia complementation group J|Breast cancer, early-onset|BRIP1-Related Disorders|Familial cancer of breast|Malignant tumor of breast|BRIP1-Related Disorders|Fanconi anemia complementation group J
  • rs143615668Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome
  • rs145855459Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J|Malignant tumor of breast
  • rs201869624Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Malignant tumor of breast
  • rs28903098Conflicting interpretationssingle nucleotide variantBreast cancer, early-onset|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J|BRIP1-Related Disorders|Familial cancer of breast|Malignant tumor of breast
  • rs28997573Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Familial ovarian cancer
  • rs374335608Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J
  • rs375710640Conflicting interpretationssingle nucleotide variantFanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J
  • rs45528833Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast
  • rs45566938Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Breast and/or ovarian cancer
  • rs4987050Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J|Breast and/or ovarian cancer
  • rs4988345Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs4988352Conflicting interpretationssingle nucleotide variantNeoplasm of ovary|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs550707862Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Cancer of cervix|Malignant tumor of breast
  • rs552752779Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast
  • rs587780828Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast
  • rs587780830Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J
  • rs587780832Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Neoplasm of ovary|Hereditary cancer-predisposing syndrome
  • rs752309409Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome
  • rs759031349Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J
  • rs764585550Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Genetic non-acquired premature ovarian failure
  • rs775509896Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast
  • rs777367075Conflicting interpretationsDuplicationFanconi anemia complementation group J|Familial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs778664039Conflicting interpretationsMicrosatelliteHereditary cancer-predisposing syndrome|BRIP1-Related Disorders|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J
  • rs786201701Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast
  • rs876661246Conflicting interpretationsDeletionFamilial cancer of breast|Fanconi anemia complementation group J|Breast and/or ovarian cancer
  • rs587780829Likely benignsingle nucleotide variantFamilial cancer of breast|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome
  • rs864622277Likely pathogenicsingle nucleotide variantFanconi anemia complementation group J|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J
  • rs1057519365PathogenicDeletionCarcinoma of colon|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Neoplasm of ovary
  • rs368796923Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Familial cancer of breast
  • rs587778134PathogenicDuplicationHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J|Breast and/or ovarian cancer
  • rs587780224PathogenicMicrosatelliteHereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J
  • rs587780236PathogenicDuplicationHereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J|Familial cancer of breast
  • rs587780240PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Malignant tumor of breast
  • rs587781655Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J
  • rs587781985PathogenicInsertionHereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J
  • rs730881647PathogenicMicrosatelliteHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J
  • rs730881649PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J
  • rs760551339PathogenicDeletionFamilial cancer of breast|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Neoplasm of ovary|Carcinoma of pancreas|Malignant tumor of breast|BRIP1-Related Disorders|Fanconi anemia complementation group J
  • rs775171520Pathogenicsingle nucleotide variantFanconi anemia complementation group J|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs775537066PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J
  • rs786203521PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome
  • rs864622166PathogenicDeletionFamilial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J
  • rs864622236PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J
  • rs864622611PathogenicDeletionFanconi anemia complementation group J|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Fanconi anemia complementation group J
  • rs878855140PathogenicInsertionFamilial cancer of breast|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome
  • rs786202637Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Fanconi anemia complementation group J

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.