PLA2G4E G36Shift - 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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PLA2G4E G36Shift

(PLA2G4E 36delGinsShift)

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

  • CCCCCCCG @ chr15:40089629: 1.2% (1/80) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (1/80)



hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het CCCCG @ chr15:42302341


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het CCCCCCG @ chr15:42302341


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CCCCCCG @ chr15:42302341


GS19020 - var-GS19020-1100-36-ASM
het CCCCCCCG @ chr15:40089630


Other external references

  • rs28736629

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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