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Gene entry

PTEN

phosphatase and tensin homolog

Chromosome
10
Cytoband
10q23.31
Variants (rsID)
148

PTEN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q23.31). Its official name is “phosphatase and tensin homolog”. The reference table lists 148 variants (rsID) for this gene.

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Clinically classified variants

125 reference-table entries with clinical significance.

  • rs190707033Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs886041877Conflicting interpretationssingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs1057520900Likely benignsingle nucleotide variant
  • rs538728843Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Cowden syndrome 1
  • rs550385924Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs767623493Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs773176120Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs786201816Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs786201867Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs1057519368Likely pathogenicsingle nucleotide variantMacrocephaly-autism syndrome|PTEN hamartoma tumor syndrome
  • rs1057519724Likely pathogenicsingle nucleotide variantNeoplasm of the large intestine|Breast neoplasm|PTEN hamartoma tumor syndrome
  • rs1064794925Likely pathogenicDuplication
  • rs1064796078Likely pathogenicsingle nucleotide variant
  • rs121909226Likely pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs121909239Likely pathogenicsingle nucleotide variantMacrocephaly-autism syndrome|PTEN hamartoma tumor syndrome
  • rs121909240Likely pathogenicsingle nucleotide variantMacrocephaly-autism syndrome|PTEN hamartoma tumor syndrome
  • rs139767111Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs370795352Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|7 conditions
  • rs397514559Likely pathogenicsingle nucleotide variantMacrocephaly-autism syndrome|PTEN hamartoma tumor syndrome
  • rs398123324Likely pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs587776669Likely pathogenicDeletionCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs587781255Likely pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs587782316Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs587782473Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs606231169Likely pathogenicDeletionProstate cancer, somatic|PTEN hamartoma tumor syndrome
  • rs606231170Likely pathogenicsingle nucleotide variantProstate cancer, somatic|PTEN hamartoma tumor syndrome
  • rs786202688Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Cowden syndrome
  • rs786204914Likely pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs864622341Likely pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs876659443Likely pathogenicsingle nucleotide variantInborn genetic diseases|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome|Familial meningioma|Cowden syndrome 1
  • rs876660535Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs876661010Likely pathogenicsingle nucleotide variant
  • rs876661177Likely pathogenicsingle nucleotide variant
  • rs1057517809Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Neoplasm of ovary
  • rs1057520208Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs1057520622Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|Cowden syndrome
  • rs1060500114PathogenicDeletionPTEN hamartoma tumor syndrome
  • rs1060500116Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs1060500122Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs1064794096Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs1064796886Pathogenicsingle nucleotide variant
  • rs121909218Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs121909219Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome|Breast neoplasm|Neoplasm of the large intestine|Glioblastoma|Non-small cell lung carcinoma|Macrocephaly-autism syndrome|Cowden syndrome|Neoplasm of ovary|Abnormality of cardiovascular system morphology
  • rs121909220Pathogenicsingle nucleotide variantLhermitte-Duclos disease|PTEN hamartoma tumor syndrome
  • rs121909221Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs121909222Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs121909223Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs121909225Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs121909227Pathogenicsingle nucleotide variantCowden syndrome 1|Macrocephaly-autism syndrome|Inborn genetic diseases|Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs121909228Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs121909229Pathogenicsingle nucleotide variantCowden syndrome 1|Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Prostate adenocarcinoma|Malignant melanoma of skin|Neoplasm|Neoplasm of the large intestine|Gastric adenocarcinoma|Neoplasm of uterine cervix|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Neoplasm of ovary|Breast neoplasm|Glioblastoma|Squamous cell lung carcinoma|Renal cell carcinoma, papillary, 1|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Cowden syndrome
  • rs121909232Pathogenicsingle nucleotide variantMelanoma|Cowden syndrome 1|Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs121909237Pathogenicsingle nucleotide variantSquamous cell carcinoma of the head and neck
  • rs121909238Pathogenicsingle nucleotide variantMacrocephaly-autism syndrome|PTEN hamartoma tumor syndrome
  • rs121909241Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome|Cowden syndrome 1
  • rs121913293Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of brain|PTEN hamartoma tumor syndrome|7 conditions|Cowden syndrome 1|Macrocephaly-autism syndrome|VACTERL with hydrocephalus|Cowden syndrome 1|Neurodevelopmental delay
  • rs121913294Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs1224040268Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|7 conditions
  • rs138336847Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Intellectual disability
  • rs1455551840Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs397514560Pathogenicsingle nucleotide variantMacrocephaly-autism syndrome|PTEN hamartoma tumor syndrome
  • rs398123325Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs398123330PathogenicDeletionHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs587776666PathogenicDeletionCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs587776667Pathogenicsingle nucleotide variantEndometrial carcinoma|Cowden syndrome 1|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs587776670PathogenicDeletionCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs587776673PathogenicDeletionProteus-like syndrome|Cowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs587780006PathogenicInsertionHereditary cancer-predisposing syndrome
  • rs587781354PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs587781912PathogenicDeletionHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs587782304PathogenicDeletionHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs587782360Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Neoplasm of ovary
  • rs727504114Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs730882131Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs786201041Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Cowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs786201995Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs786202529PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs786202733Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs786202786PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs786202894PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs786202918Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs786203477PathogenicInsertionHereditary cancer-predisposing syndrome
  • rs786204862Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs786204875Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs786204884PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs786204894PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs786204895PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs786204900PathogenicDeletionHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|PTEN hamartoma tumor syndromes|Cowden syndrome 1
  • rs786204904PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs786204906PathogenicInsertionHereditary cancer-predisposing syndrome
  • rs786204926Pathogenicsingle nucleotide variant
  • rs786204929Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Inborn genetic diseases|PTEN hamartoma tumor syndrome
  • rs786204931Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome|Cowden syndrome 1
  • rs786204933Pathogenicsingle nucleotide variant
  • rs797045066PathogenicDuplicationMacrocephaly-autism syndrome
  • rs864622387PathogenicDuplicationPTEN hamartoma tumor syndrome
  • rs869312780PathogenicMicrosatelliteCowden syndrome
  • rs876658171PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs876658304PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs876660507Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|PTEN hamartoma tumor syndrome
  • rs876660634Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|8 conditions|PTEN hamartoma tumor syndrome|Cowden syndrome 1
  • rs876661024Pathogenicsingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs876661058Pathogenicsingle nucleotide variant
  • rs878853012Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs878853936Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs878853940PathogenicDeletionPTEN hamartoma tumor syndrome
  • rs878853941PathogenicDuplicationPTEN hamartoma tumor syndrome
  • rs878853944Pathogenicsingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs1114167625Uncertain significanceDeletionHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs121909233Uncertain significancesingle nucleotide variantMelanoma|PTEN hamartoma tumor syndrome
  • rs121909234Uncertain significancesingle nucleotide variantMelanoma|PTEN hamartoma tumor syndrome
  • rs121909235Uncertain significancesingle nucleotide variantGlioma susceptibility 2|Meningioma|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome
  • rs374331677Uncertain significancesingle nucleotide variantPTEN hamartoma tumor syndrome|Cowden syndrome 1|Hereditary cancer-predisposing syndrome
  • rs375709098Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Cowden syndrome 1
  • rs398123322Uncertain significancesingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs587776675Uncertain significancesingle nucleotide variantCowden syndrome 1|PTEN hamartoma tumor syndrome
  • rs587779992Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs587779994Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Cowden syndrome 1|7 conditions|PTEN hamartoma tumor syndrome
  • rs587782641Uncertain significanceDuplicationHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs587782788Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs746930141Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome
  • rs770025422Uncertain significancesingle nucleotide variantTransitional cell carcinoma of the bladder|Malignant neoplasm of body of uterus|Glioblastoma|Neoplasm of the large intestine|Neoplasm of uterine cervix|Uterine carcinosarcoma|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Gastric adenocarcinoma
  • rs786201280Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Cowden syndrome 1
  • rs786204867Uncertain significancesingle nucleotide variantPTEN hamartoma tumor syndrome
  • rs794729664Uncertain significancesingle nucleotide variantMacrocephaly-autism syndrome|PTEN hamartoma tumor syndrome|Cowden syndrome 1

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.