TMPRSS3 A90T - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TMPRSS3 A90T

(TMPRSS3 Ala90Thr)


Short summary

 

Variant evidence
Computational -
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 @ chr21:43809092: 3.5% (377/10758) in EVS
  • T @ chr21:42682160: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.5% (377/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr21:43809092

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr21:43809092

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr21:43809092

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr21:43809092

 

Other external references
 

    dbSNP
  • rs45598239
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TMPRSS3 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    DFNB10 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TMPRSS3
    PolyPhen-2
  • Score: 0.957 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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