PMS2 T511A - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

PMS2 T511A

(PMS2 Thr511Ala)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

Added in this revision:

snp-6

 

Other external references
 

    GeneTests
  • GeneTests records for the PMS2 gene
    Turcot Syndrome
    Hereditary Non-Polyposis Colon Cancer
    PMS2-Related Hereditary Non-Polyposis Colon Cancer
    PMS2-Related Turcot Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PMS2
    PolyPhen-2
  • 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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