SYNE1 A8168S - 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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Curation:
Currentness:

SYNE1 A8168S

(SYNE1 Ala8168Ser)


Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
PolyPhen=benign(0)
Mutation Tasting Prediction: Polymorphism p value: 0.978664; protein features (might be) affected (Detail: aa 1-8746 TOPO_DOMAIN Cytoplasmic (potential) gets lost; aa 4913-4945 REPEAT Spectrin 30 gets lost)
SIFT: Tolerated 0.07
GVGD: GV 65.28; GD 99.13; Class C15
Multi-alignment of Q8NF91.3 [Homo sapiens] with: XP_002747162.1 [Callithrix jacchus] XP_001494325.1 [Equus caballus] XP_002920318.1 [Ailuropoda melanoleuca] Q6ZWR6.2 [SYNE1-MOUSE] XP_001381250.1 [Monodelphis domestica] XP_419679.2 [Gallus gallus] XP_003224738.1 [Anolis carolinensis]

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

  • A @ chr6:152470752: 13.4% (1440/10758) in EVS
  • A @ chr6:152512444: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 13.4% (1440/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr6:152470752

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr6:152470752

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr6:152470752

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:152512445

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr6:152512445

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr6:152512445

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr6:152512445

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:152512445

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr6:152512445

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr6:152512445

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr6:152512445

 

Other external references
 

    dbSNP
  • rs17082236
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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