SYNE2 P4912A - 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 P4912A

(SYNE2 Pro4912Ala)


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

  • G @ chr14:64604592: 3.8% (411/10758) in EVS
  • G @ chr14:63674344: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.8% (411/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr14:64604592

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr14:64604592

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr14:63674345

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr14:63674345

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr14:63674345

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr14:63674345

 

Other external references
 

    dbSNP
  • rs17766354
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.98 (probably 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 = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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