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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SYNE1 A8168S

(SYNE1 Ala8168Ser)

Short summary


Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
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 -


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

  • 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)



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

  • rs17082236
  • 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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