BIRC2 A506V - 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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(BIRC2 Ala506Val)

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

  • T @ chr11:102248377: 3.9% (420/10756) in EVS
  • T @ chr11:101753586: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (420/10756)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr11:102248377


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr11:102248377


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr11:102248377



huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr11:102248377


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr11:102248377


GS19834 - var-GS19834-1100-36-ASM
het T @ chr11:101753587


GS20502 - var-GS20502-1100-36-ASM
het T @ chr11:101753587


Other external references

  • rs34510872
  • Score: 0.292 (possibly damaging)
    Web search results (2 hits -- see all)
  • Baculoviral IAP repeat-containing protein 2 - Homo sapiens (Human)
    BIRC2. Synonyms: API1, IAP2, MIHB, RNF48. Organism. Homo sapiens (Human) ... A V: dbSNP rs34510872. Ref.4. VAR_025017. Natural variant. 549. 1. P S: ...
  • UniProt: BIRC2_HUMAN
    AC Q13490; Q16516; Q4TTG0; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. ... GC11P101723; -. DR H-InvDB; HIX0010063; -. DR HGNC; HGNC:590; BIRC2. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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