FLG R3530S - GET-Evidence

Curation:
Currentness:

FLG R3530S

(FLG Arg3530Ser)


Short summary

Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner.

Variant evidence
Computational -1

Polyphen 2 predicts damaging effect

Functional -
Case/Control

Insufficient observations to confirm lack of pathogeic effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr1:152276772: 10.9% (1171/10758) in EVS
  • A @ chr1:150543395: 6.0% (5/84) in GET-Evidence
  • Frequency shown in summary reports: 10.9% (1171/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr1:152276772

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr1:152276772

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr1:152276772

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr1:152276772

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:152276772

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr1:150543396

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr1:150543396

 

Other external references
 

    dbSNP
  • rs72697000
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FLG gene
    FGFR-Related Craniosynostosis
    Kallmann Syndrome
    FGFR1-Related Craniosynostosis
    Kallmann Syndrome 2
    Osteoglophonic Dysplasia
    Pfeiffer Syndrome Type 1, 2 and 3
    Ichthyosis Vulgaris
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLG
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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