SYNE2 K3523Q - 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:

SYNE2 K3523Q

(SYNE2 Lys3523Gln)


Short summary

 

Variant evidence
Computational -
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

  • C @ chr14:64537498: 2.7% (264/9754) in EVS
  • C @ chr14:63607250: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (264/9754)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr14:64537498

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr14:63607251

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr14:63607251

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr14:63607251

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr14:63607251

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr14:63607251

 

Other external references
 

    dbSNP
  • rs35203186
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.75 (possibly damaging)
    Web search results (1 hit -- see all)
  • Nesprin-2 - Homo sapiens (Human)
    SYNE2. Synonyms: KIAA1011, NUA. Organism. Homo sapiens (Human) [Complete ... Defects in SYNE2 are the cause of Emery-Dreifuss muscular dystrophy type 5 ...
    www.uniprot.org/uniprot/Q8WXH0

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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