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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(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 -


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 @ 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)




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

  • rs3219484
    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":

Log in