MTMR2 E502Q - 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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(MTMR2 Glu502Gln)

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

  • G @ chr11:95571347: 3.3% (359/10758) in EVS
  • G @ chr11:95210994: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (359/10758)



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr11:95571347


GS19701 - var-GS19701-1100-36-ASM
het G @ chr11:95210995


GS21767 - var-GS21767-1100-36-ASM
het G @ chr11:95210995


Other external references

  • rs61735578
    Web search results (2 hits -- see all)
  • Inherited Peripheral Neuropathies
    Mutations in MTMR2. Name. c.8C>A. Alias. Thr3Lys. Description. Point mutation in coding region ... E502Q. Region. EX13. CDS. Date Added: 28-Jun-01. ID: 497. Name. c.[1634A>G] ...

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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