PMS2 T511A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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PMS2 T511A

(PMS2 Thr511Ala)

You are viewing the latest version of this page, saved on November 29, 2012 at 7:18am by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr7:6026865: 2.1% (227/10758) in EVS
  • C @ chr7:5993390: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (227/10758)



hu34D5B9 - hu34D5B9 exome
het C @ chr7:6026865


Added in this revision:


GS06994 - var-GS06994-1100-36-ASM
het C @ chr7:5993391


Other external references

  • rs2228007
  • GeneTests records for the PMS2 gene
    Turcot Syndrome
    Hereditary Non-Polyposis Colon Cancer
    PMS2-Related Hereditary Non-Polyposis Colon Cancer
    PMS2-Related Turcot Syndrome
  • Score: 0.001 (benign)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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