SYNE1 G8323A - 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 G8323A

(SYNE1 Gly8323Ala)


Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
PolyPhen=benign(0.004)
Mutation Tasting Prediction: Polymorphism p value: 0.976048; protein features (might be) affected (Detail: aa 1-8746 TOPO_DOMAIN Cytoplasmic (potential) gets lost)
SIFT: Tolerated 0.16
GVGD: GV 55.27; GD 52.86; Class C0
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

  • G @ chr6:152469188: 37.6% (4040/10758) in EVS
  • G @ chr6:152510880: 27.3% (35/128) in GET-Evidence
  • Frequency shown in summary reports: 37.6% (4040/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr6:152469188

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr6:152469188

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr6:152469188

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr6:152469188

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr6:152469188

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr6:152469188

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr6:152469188

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr6:152469188

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr6:152469188

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr6:152469188

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom G @ chr6:152469188

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr6:152469188

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom G @ chr6:152469188

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr6:152469188

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr6:152469188

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr6:152469188

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr6:152469188

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr6:152469188

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr6:152469188

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr6:152469188

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr6:152469188

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chr6:152510881

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr6:152510881

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr6:152510881

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr6:152510881

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr6:152510881

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr6:152510881

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr6:152510881

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr6:152510881

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr6:152510881

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr6:152510881

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr6:152510881

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr6:152510881

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr6:152510881

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chr6:152510881

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr6:152510881

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr6:152510881

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr6:152510881

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr6:152510881

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr6:152510881

 

Other external references
 

    dbSNP
  • rs2252755
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (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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