BCL2L14 R292W - 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:

BCL2L14 R292W

(BCL2L14 Arg292Trp)


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 @ chr12:12247793: 4.5% (480/10758) in EVS
  • T @ chr12:12139059: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (480/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr12:12247793

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr12:12139060

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr12:12139060

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr12:12139060

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr12:12139060

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr12:12139060

 

GS20509 - var-GS20509-1100-36-ASM
hom T @ chr12:12139060

 

Other external references
 

    dbSNP
  • rs61739220
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in