BSPRY Q293H - 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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(BSPRY Gln293His)

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

  • C @ chr9:116132092: 4.2% (431/10204) in EVS
  • C @ chr9:115171912: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.2% (431/10204)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr9:116132092



GS19649 - var-GS19649-1100-36-ASM
het C @ chr9:115171913


GS19701 - var-GS19701-1100-36-ASM
het C @ chr9:115171913


GS20509 - var-GS20509-1100-36-ASM
het C @ chr9:115171913


Other external references

  • rs818711
  • Score: 0.292 (possibly damaging)
    Web search results (6 hits -- see all)
  • BSPRY Gene - GeneCards | BSPRY Protein | BSPRY Antibody
    BSPRY Gene in genomic location: bands according to Ensembl, locations according to (and ... Monoclonal and Polyclonal Antibodies from Abnova (BSPRY) ...
  • B box and SPRY domain-containing protein - Homo sapiens (Human)
    BSPRY. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... Q H: dbSNP rs818711. VAR_026882. Natural variant. 374. 1. T I: dbSNP ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: BSPRY ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • UniProt: Q5W0U4
    AC Q5W0U4; B3KS19; Q96DJ2; Q9H4E4; Q9NXN0; DT 27-JUN-2006, integrated into ... B box and SPRY domain-containing protein; GN Name=BSPRY; OS Homo sapiens (Human) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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