MYOM2 V363I - 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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(MYOM2 Val363Ile)

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

  • A @ chr8:2021547: 3.1% (329/10758) in EVS
  • A @ chr8:2008953: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (329/10758)




GS18502 - var-GS18502-1100-36-ASM
het A @ chr8:2008954


GS19025 - var-GS19025-1100-36-ASM
het A @ chr8:2008954


GS19026 - var-GS19026-1100-36-ASM
het A @ chr8:2008954


Other external references

  • rs34316994
    Web search results (6 hits -- see all)
  • Myomesin-2 - Homo sapiens (Human)
    ... OS=Homo sapiens GN=MYOM2 PE=2 SV=2 MSLVTVPFYQKRHRHFDQSYRNIQTRYLLDEYASKKRASTQASSQKSLSQRSSSQRASSQ ... MYOM2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
  • MYOM2 Gene - GeneCards | MYOM2 Protein | MYOM2 Antibody
    Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 ... MYOM2 Gene in genomic location: bands according to Ensembl, locations according ...
  • UniProt: P54296
    AC P54296; Q7Z3Y2; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. ... Full=165 kDa connectin-associated protein; GN Name=MYOM2; OS Homo sapiens (Human) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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