FLG R3738H - 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:

FLG R3738H

(FLG Arg3738His)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: possibly damaging 0.777
SIFT: Affect protein function 0.00
GVGD: GV 353.86; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.31);
PolyPhen=possibly_damaging(0.465);
Condel=deleterious(0.490) Mutation Tasting Prediction: Polymorphism, P value: 0.998276
protein features (might be) affected (aa 260-3955 COMPBIAS Ser-rich gets lost)

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

  • T @ chr1:152276149: 10.7% (1154/10758) in EVS
  • T @ chr1:150542772: 13.4% (15/112) in GET-Evidence
  • Frequency shown in summary reports: 10.7% (1154/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr1:152276149

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr1:152276149

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr1:152276149

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr1:152276149

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr1:152276149

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr1:152276149

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr1:152276149

 

hu9385BA

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr1:152276149

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr1:152276149

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr1:152276149

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:150542773

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:150542773

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:150542773

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr1:150542773

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr1:150542773

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:150542773

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:150542773

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr1:150542773

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr1:150542773

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr1:150542773

 

Other external references
 

    dbSNP
  • rs77422831
    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: 0.278 (possibly damaging)
    Web search results (1 hit -- 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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