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Gene entry

PMS2

PMS1 homolog 2, mismatch repair system component

Chromosome
7
Cytoband
7p22.1
Variants (rsID)
108

PMS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p22.1). Its official name is “PMS1 homolog 2, mismatch repair system component”. The reference table lists 108 variants (rsID) for this gene.

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Clinically classified variants

105 reference-table entries with clinical significance.

  • rs115052399Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs12534423Benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1805321Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|Mismatch repair cancer syndrome 4
  • rs1805323Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma
  • rs1805324Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Neoplasm of ovary|Endometrial carcinoma
  • rs2228007Benignsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma
  • rs2286680Benignsingle nucleotide variantLynch syndrome
  • rs573125799Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs115670442Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs116349687Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs116373169Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Malignant tumor of breast
  • rs139194813Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome
  • rs139438201Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
  • rs148069478Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1805322Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs188006077Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs199660792Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Malignant tumor of breast
  • rs200513014Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch-like syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
  • rs200591010Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer
  • rs201395630Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs368928783Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms
  • rs373114291Conflicting interpretationssingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs374704824Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Endometrial carcinoma|Polyp of colon|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer
  • rs375289386Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer
  • rs530021751Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs553286217Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome
  • rs567102013Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms
  • rs576055272Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer
  • rs587779342Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
  • rs786203510Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1057521069Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs757324104Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs759192470Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1064795705Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs111466480Likely pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs121434629Likely pathogenicsingle nucleotide variantTurcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Pituitary carcinoma|Colorectal cancer, hereditary nonpolyposis, type 4|Turcot syndrome|Mismatch repair cancer syndrome 4|Endometrial carcinoma|Lynch syndrome 1|Breast and/or ovarian cancer|See cases
  • rs267608147Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608153Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome 1
  • rs267608158Likely pathogenicsingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome
  • rs587779324Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs587779329Likely pathogenicsingle nucleotide variantLynch syndrome
  • rs745487791Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs863224450Likely pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs878854059Likely pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1057515571PathogenicDeletionColorectal cancer, hereditary nonpolyposis, type 4
  • rs1060503138Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1060503142Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs1060503148PathogenicDeletionHereditary nonpolyposis colorectal neoplasms
  • rs1064793234PathogenicDeletionHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1064794083Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1064794152PathogenicDeletionHereditary nonpolyposis colorectal neoplasms
  • rs1064794173PathogenicDeletionHereditary nonpolyposis colorectal neoplasms
  • rs1064795447PathogenicMicrosatelliteHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs1064796190Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs121434630Pathogenicsingle nucleotide variantMismatch repair cancer syndrome 4
  • rs141577476Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer|Turcot syndrome|Lynch syndrome 1
  • rs143277125Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs1437858319Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer
  • rs1458321358Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary cancer-predisposing syndrome
  • rs200640585Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Malignant tumor of breast
  • rs201451115Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colon cancer|Mismatch repair cancer syndrome 4
  • rs267608148PathogenicDuplicationLynch syndrome
  • rs267608149PathogenicDuplicationLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs267608156PathogenicDuplicationLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs267608159PathogenicDeletionColorectal cancer, hereditary nonpolyposis, type 4
  • rs267608160PathogenicDeletionMismatch repair cancer syndrome 4|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs373885654Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779330PathogenicDuplicationLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587779336PathogenicMicrosatelliteLynch syndrome
  • rs587780064Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Lynch syndrome 1
  • rs587780724Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
  • rs587781395PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs587782074Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587782710PathogenicDeletionHereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63750250PathogenicDuplicationLynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Turcot syndrome
  • rs63750261Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs63750477PathogenicDeletionLynch syndrome
  • rs63750490Pathogenicsingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colon cancer
  • rs63750871Pathogenicsingle nucleotide variantMismatch repair cancer syndrome 4|Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Turcot syndrome|Lynch syndrome 1
  • rs63751029PathogenicDeletionLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63751228Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs63751422Pathogenicsingle nucleotide variantLynch syndrome|Turcot syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Pulmonary insufficiency|Pulmonary arterial hypertension|Respiratory insufficiency
  • rs746766787PathogenicMicrosatelliteHereditary nonpolyposis colorectal neoplasms
  • rs758304323Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary cancer-predisposing syndrome|Lynch syndrome
  • rs760228510Pathogenicsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome
  • rs764342199Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs766389591PathogenicDeletionHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs769742496PathogenicDeletionHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer
  • rs778531080Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs786201047Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs786202098Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs786203954Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs864622600PathogenicDuplicationHereditary nonpolyposis colorectal neoplasms
  • rs876658862Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs876659736Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs878854037Pathogenicsingle nucleotide variantLynch syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs878854060PathogenicMicrosatelliteHereditary nonpolyposis colorectal neoplasms
  • rs146848345Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs182246929Uncertain significancesingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome
  • rs587782175Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs587782602Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs587782898Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
  • rs730881914Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs730881919Uncertain significancesingle nucleotide variantHereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4
  • rs876659162Uncertain significancesingle nucleotide variantHereditary 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.