BRD9 A266T - 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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BRD9 A266T

(BRD9 Ala266Thr)

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 @ chr5:886744: 4.9% (526/10758) in EVS
  • Frequency shown in summary reports: 4.9% (526/10758)



Other external references

  • rs34292369
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • BRD9 Gene - GeneCards | BRD9 Protein | BRD9 Antibody
    Regulatory transcription factor binding sites in the BRD9 gene upstream (promoter) region ... BRD9 Gene in genomic location: bands according to Ensembl, locations ...
  • Bromodomain-containing protein 9 - Homo sapiens (Human)
    BRD9. ORF Names: UNQ3040/PRO9856. Organism. Homo sapiens (Human) [Complete proteome] ... "Crystal structure of human bromodomain containing 9 isoform 1 (BRD9) ...
  • UniProt: Q9H8M2
    ... (SGC); RT "Crystal structure of human bromodomain containing 9 isoform 1 RT (BRD9) ... HIX0004711; -. DR HGNC; HGNC:25818; BRD9. DR HPA; HPA021465; -. DR PharmGKB; PA134866578; ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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