PMS2 T485K - GET-Evidence

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

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PMS2 T485K

(PMS2 Thr485Lys)

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

  • 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)



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

  • rs1805323
  • 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 (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) ...
  • 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 ...
  • 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 ...
    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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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