THBD A473V - GET-Evidence

Curation:
Currentness:

THBD A473V

(THBD Ala473Val)


Short summary

While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.

Variant evidence
Computational 1

other variants in this gene cause similar disease

Functional -
Case/Control -1

allele frequency contradicts a pathogenic hypothesis
Delvaeye et al. refer to this variant as a common coding variant and note that unaffected test subjects carry it

See Delvaeye M et al. 2009 (19625716).

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 @ chr20:23028724: 14.0% (1510/10756) in EVS
  • A @ chr20:22976723: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 14.0% (1510/10756)

Publications
 

Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009 Jul 23;361(4):345-57. PubMed PMID: 19625716.

 

Genomes
 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr20:23028724

 

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr20:23028724

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr20:23028724

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr20:23028724

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr20:23028724

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr20:23028724

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr20:23028724

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr20:23028724

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr20:23028724

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr20:23028724

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr20:22976724

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr20:22976724

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr20:22976724

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr20:22976724

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr20:22976724

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr20:22976724

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr20:22976724

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr20:22976724

 

Other external references
 

    dbSNP
  • rs1042579
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the THBD gene
    Atypical Hemolytic-Uremic Syndrome
    THBD-Related Atypical Hemolytic-Uremic Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/THBD
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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