MAGEL2 L448I - 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!

Curation:
Currentness:

MAGEL2 L448I

(MAGEL2 Leu448Ile)


Short summary

 

Variant evidence
Computational -
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 @ chr15:23889739: 3.1% (316/10050) in EVS
  • T @ chr15:21440831: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (316/10050)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr15:23889739

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr15:23889739

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr15:21440832

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr15:21440832

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr15:21440832

 

Other external references
 

    dbSNP
  • rs2233070
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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