DMD R2155W - GET-Evidence

Curation:
Currentness:

DMD R2155W

(DMD Arg2155Trp)


Short summary

Probably benign.

Variant evidence
Computational -1

Polyphen 2 predicts damaging effect.

Functional -
Case/Control 5

Very strong contradiction of severe pathogenic hypothesis. Seen in 2 out of 92 PGP and public control genomes, and seen in a healthy male PGP participant.

Familial 2

Sitnik et al. conclude familial segregation indicates the variant is a polymorphism.

See Sitnik R et al. 1997 (9298822).

 
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

Frequency in controls is 2/92, extremely inconsistent with a disease causing hypothesis. The variant is also seen in another unaffected male PGP genome (not in the frequency calculation).

Allele frequency

  • A @ chrX:31986607: 2.7% (236/8756) in EVS
  • A @ chrX:31896527: 2.2% (2/92) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (236/8756)

Publications
 

Sitnik R, Campiotto S, Vainzof M, Pavanello RC, Takata RI, Zatz M, Passos-Bueno MR. Novel point mutations in the dystrophin gene. Hum Mutat. 1997;10(3):217-22. PubMed PMID: 9298822.

In this study of variants causing Duchenne muscular dystrophy, this variant, along with Arg528Asp, is listed as a polymorphism as it did not segregate with disease in the families studied.

Genomes
 

 

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chrX:31896528

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chrX:31896528

 

Other external references
 

    dbSNP
  • rs1800273
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DMD gene
    DMD-Associated Dilated Cardiomyopathy
    DMD-Related Dilated Cardiomyopathy
    Dystrophinopathies
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DMD
    PolyPhen-2
  • Score: 0.942 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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