PMS2 T511A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

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 -
 

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
 

hu34D5B9 - hu34D5B9 exome
het C @ chr7:6026865

 

Added in this revision:

 

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

 

Other external references
 

    dbSNP
  • rs2228007
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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