NEFL S472Shift - GET-Evidence

Curation:
Currentness:

NEFL S472Shift

(NEFL 472delSinsShift)


Short summary

Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.

Variant evidence
Computational -
Functional -
Case/Control 5

Appears to exist in all nonreference data, strongly supporting a nonpathogenic effect.

Familial
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Likely benign

(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom - @ chr8:24811065

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom - @ chr8:24811065

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom - @ chr8:24811065

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom - @ chr8:24811065

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom - @ chr8:24811065

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom - @ chr8:24811065

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom - @ chr8:24811065

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom - @ chr8:24811065

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom - @ chr8:24811065

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom - @ chr8:24811065

 

 

 

Other external references
 

    dbSNP
  • rs11340767
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the NEFL gene
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 1
    Charcot-Marie-Tooth Neuropathy Type 1F/2E
    Charcot-Marie-Tooth Neuropathy Type 2E/1F
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEFL

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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