PMS2 T485K - 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 T485K

(PMS2 Thr485Lys)


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

  • T @ chr7:6026942: 3.3% (359/10758) in EVS
  • T @ chr7:5993467: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (359/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr7:6026942

 

 

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr7:5993468

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr7:5993468

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr7:5993468

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr7:5993468

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr7:5993468

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr7:5993468

 

Other external references
 

    dbSNP
  • rs1805323
    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 (benign)
    Web search results (4 hits -- see all)
  • Mismatch Repair Gene PMS2: Disease-Causing Germline Mutations ...
    As candidates for PMS2 mutations, we selected seven patients whose ... in patient 4645 who carried two previously reported missense variants (T485K and T511A) ...
    cancerres.aacrjournals.org/cgi/content/full/64/14/4721
  • Cancer Research -- Nakagawa et al. 64 (14): 4721 Figure 4
    Fig. 4. The structure of human PMS2 and PMS2CL transcript and germline mutations. ... 11–15 of PMS2 but does not contain the sequence corresponding to exon ...
    cancerres.aacrjournals.org/cgi/content-nw/full/64/14/4721/F4
  • PolyPhen: results for P54278 T485K
    PMS1 PROTEIN HOMOLOG 2 (DNA MISMATCH REPAIR PROTEIN PMS2) ... Mapping of the substitution site to known protein 3D structures. Database. Initial number ...
    tux.embl-heidelberg.de/ramensky/data/html/SNP000064712.html
  • GENETICS OF PRIMARY ALDOSTERONISM – FAMILIAL ...
    For PMS2, 11 SNPs were found [two in the proximal promoter: -195T/C and -154C/G; four non-synonymous coding SNPs: C1408T (P470S), C1454A (T485K) ...
    espace.library.uq.edu.au/view/UQ:158577

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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