MUTYH V8M - 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:

MUTYH V8M

(MUTYH Val8Met)


Short summary

 

Variant evidence
Computational 1

PolyPhen-2 gives an error message for MUTYH-V8M. Checking dbSNP for rs3219484 shows this also as MUTYH-V22M. PolyPhen-2 evaluates MUTYH-V22M as BENIGN with a score of 0.185 (sensitivity: 0.92; specificity: 0.87).

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 @ chr1:45800156: 5.1% (554/10758) in EVS
  • T @ chr1:45572742: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (554/10758)

Publications
 

Genomes
 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr1:45800156

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr1:45800156

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:45800156

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr1:45800156

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr1:45572743

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr1:45572743

 

Other external references
 

    dbSNP
  • rs3219484
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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