OFD1 Q545R - GET-Evidence

Curation:
Currentness:

OFD1 Q545R

(OFD1 Gln545Arg)


Short summary

Rare, tentatively evaluated as benign. Polyphen 2 predicts damaging effect, but this is variant found in a healthy male PGP participant.

Variant evidence
Computational -1

Polyphen 2 predicts damaging effect

Functional -
Case/Control 2

Present in an unaffected male PGP participant

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

Other variants in this gene are associated with diseases (Joubert syndrome and Oral-Facial-Digital Syndrome), but predicted effects are inconsistent with the presence of this variant in a healthy male PGP participant.

Allele frequency

  • G @ chrX:13776547: 0.0% (1/8761) in EVS
  • G @ chrX:13686467: 1.1% (1/92) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (1/8761)

Publications
 

Genomes
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chrX:13776547

 

Other external references
 

    GeneTests
  • GeneTests records for the OFD1 gene
    Joubert Syndrome
    OFD1-Related Joubert Syndrome
    Oral-Facial-Digital Syndrome Type I
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OFD1
    PolyPhen-2
  • Score: 0.991 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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