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Gene entry

PALB2

partner and localizer of BRCA2

Chromosome
16
Cytoband
16p12.2
Variants (rsID)
131

PALB2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p12.2). Its official name is “partner and localizer of BRCA2”. The reference table lists 131 variants (rsID) for this gene.

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Clinically classified variants

125 reference-table entries with clinical significance.

  • rs45551636Benignsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs45624036Benignsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Malignant tumor of breast|Familial ovarian cancer
  • rs138789658Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Hereditary breast ovarian cancer syndrome
  • rs139555085Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs146218439Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Endometrial carcinoma
  • rs147045425Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Anaplastic ependymoma
  • rs148026749Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs149522412Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Familial cancer of breast
  • rs150390726Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs151316635Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Malignant tumor of breast
  • rs180177115Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs182194007Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs183489969Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs200620434Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary cancer|Breast and/or ovarian cancer
  • rs202241382Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Familial cancer of breast
  • rs367578415Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs367979106Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs369132015Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|PALB2-Related Disorders
  • rs373321719Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Endometrial carcinoma
  • rs373478248Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs374736398Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs375699023Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Chordoma
  • rs377626805Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N|Malignant tumor of breast
  • rs45464991Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Pancreatic cancer, susceptibility to, 3|Malignant tumor of breast
  • rs45478192Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Breast and/or ovarian cancer|Malignant tumor of breast
  • rs45494092Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs45594034Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs515726072Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Familial ovarian cancer
  • rs515726085Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs515726118Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs528541334Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs541028076Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Carcinoma of colon
  • rs57605939Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Malignant tumor of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs587778586Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs587778587Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs587780205Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Pancreatic cancer, susceptibility to, 3
  • rs587781818Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N|Hereditary breast ovarian cancer syndrome|Endometrial carcinoma
  • rs587782462Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs749494645Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
  • rs75023630Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs756502783Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs757145884Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N
  • rs763598472Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs769414858Conflicting interpretationsDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs769849072Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N
  • rs770965402Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Pilocytic astrocytoma
  • rs774049060Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs786202524Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N
  • rs786203245Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs864622622Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs876659983Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs180177093Likely benignsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs763513849Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs771660444Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs1057517585Likely pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs1060499814Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Breast cancer, susceptibility to|Pancreatic cancer, susceptibility to, 3
  • rs587776423Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs876659463Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs1057517539Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs1060499828PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs118203997Pathogenicsingle nucleotide variantFanconi anemia complementation group N|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs118203998Pathogenicsingle nucleotide variantFanconi anemia complementation group N|Breast cancer, susceptibility to|Familial cancer of breast|Hereditary cancer-predisposing syndrome|PALB2-Related Disorders|Pancreatic cancer, susceptibility to, 3
  • rs118203999Pathogenicsingle nucleotide variantFanconi anemia complementation group N|Breast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs180177083Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer
  • rs180177084PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Colorectal cancer
  • rs180177090PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer
  • rs180177091Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs180177097Pathogenicsingle nucleotide variantBreast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs180177099PathogenicMicrosatelliteFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs180177100Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group N|Tracheoesophageal fistula|Pancreatic cancer, susceptibility to, 3|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs180177103Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs180177110Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Fanconi anemia complementation group N
  • rs180177111Pathogenicsingle nucleotide variantFamilial cancer of breast|Breast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs180177112Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N
  • rs180177122Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs180177126PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group N
  • rs180177127PathogenicDuplicationFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs180177131PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs180177132Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Breast cancer, susceptibility to|Hereditary breast ovarian cancer syndrome|PALB2-Related Disorders|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Pancreatic cancer, susceptibility to, 3|Fanconi anemia complementation group N|Malignant tumor of breast
  • rs180177133PathogenicDeletionBreast cancer, susceptibility to|Familial cancer of breast|Fanconi anemia complementation group N|Pancreatic cancer, susceptibility to, 3|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs180177135PathogenicDeletionFanconi anemia complementation group N|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
  • rs180177142PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs180177143PathogenicMicrosatelliteHereditary cancer-predisposing syndrome|Familial cancer of breast|Pancreatic cancer, susceptibility to, 3|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|Colorectal cancer|Fanconi anemia complementation group N
  • rs515726060PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs515726099Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs515726104PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome
  • rs587776406PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs587776407Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs587776410PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N
  • rs587776411Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs587776413Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs587776416PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast neoplasm|Cancer of the pancreas|Fanconi anemia complementation group N
  • rs587776426PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs587781840PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Breast cancer, susceptibility to
  • rs587782005Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast|Breast cancer, susceptibility to
  • rs587782081PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs587782570PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast|BAP1-related tumor predisposition syndrome
  • rs587782680PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast|Familial cancer of breast|Fanconi anemia complementation group N|Pancreatic cancer, susceptibility to, 3|Fanconi anemia complementation group N
  • rs730881868PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs730881869PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs730881871PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs730881905Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs753153576Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs760094988Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs764509489Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs786203821Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs864622138Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs864622301PathogenicDuplicationFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs864622481Pathogenicsingle nucleotide variantFamilial cancer of breast
  • rs864622498PathogenicDuplicationFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Pancreatic cancer, susceptibility to, 3
  • rs869312774PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs876658192PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs876658813PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group N
  • rs876658983Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs876659997PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer
  • rs878855122Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Lung cancer
  • rs879253892PathogenicDeletionFamilial cancer of breast
  • rs879254060PathogenicDeletionFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs879254113Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs886039480Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Fanconi anemia|Hereditary cancer|Familial cancer of breast
  • rs886041220PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs141749524Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs199743500Uncertain significancesingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs202194596Uncertain significancesingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs536644825Uncertain significancesingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome

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.