SETX S2612G - 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!



(SETX Ser2612Gly)

Short summary


Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.999735; no protein features affected.
GVGD: GV 103.39; GD 0.00; Class C0
Multi-alignment of Q7Z333.4 probable helicase senataxin [Homo sapiens] with: XP_520331.2 [Pan troglodytes] XP_002820362.1 [Pongo abelii] XP_002799993.1 [Macaca mulatta] XP_002743464.1 [Callithrix jacchus] XP_002924403.1 [Ailuropoda melanoleuca] XP_001498724.2 [Equus caballus] XP_537811.2 [Canis familiaris] XP_859643.1 [Canis familiaris] NP_932150.2 [Mus musculus] DAA01946.1 [Mus musculus]

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 @ chr9:135139826: 7.5% (811/10758) in EVS
  • C @ chr9:134129646: 13.5% (17/126) in GET-Evidence
  • Frequency shown in summary reports: 7.5% (811/10758)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr9:135139826





hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr9:135139826


huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr9:135139826


GS18502 - var-GS18502-1100-36-ASM
het C @ chr9:134129647


GS18508 - var-GS18508-1100-36-ASM
het C @ chr9:134129647


GS18517 - var-GS18517-1100-36-ASM
het C @ chr9:134129647


GS18555 - var-GS18555-1100-36-ASM
het C @ chr9:134129647


GS18942 - var-GS18942-1100-36-ASM
hom C @ chr9:134129647


GS18947 - var-GS18947-1100-36-ASM
hom C @ chr9:134129647


GS18956 - var-GS18956-1100-36-ASM
hom C @ chr9:134129647


GS19026 - var-GS19026-1100-36-ASM
het C @ chr9:134129647


GS19703 - var-GS19703-1100-36-ASM
het C @ chr9:134129647


GS21767 - var-GS21767-1100-36-ASM
het C @ chr9:134129647


Other external references

  • rs3739927
  • GeneTests records for the SETX gene
    Amyotrophic lateral sclerosis
    Ataxia with Oculomotor Apraxia 2
    SETX-Related Amyotrophic Lateral Sclerosis
    Web search results (7 hits -- see all)
  • Type I- 99%
    ... Reference(s) for phosphorylation site TBX19 O60806 S128F 128 VAR_018387 CMGC (0. ... rs1800520) 9717837 11524731 SETX Q7Z333 S2612G 2612 VAR_018793 CMGC ...
  • Type I- 99%
    ... belgian patient PRB2 P02812 S274P 274 VAR_019695 CK1 (0.632) Con1-, abolishes the glycosylation site at ... PKC (0.962) HeLa cells SETX Q7Z333 S2612G 2612 VAR_018793 CDK (0.983) ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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