SH3TC2 V1158I - 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:

SH3TC2 V1158I

(SH3TC2 Val1158Ile)


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 @ chr5:148388420: 2.4% (263/10758) in EVS
  • T @ chr5:148368612: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 2.4% (263/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr5:148388420

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr5:148388420

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr5:148368613

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr5:148368613

 

Other external references
 

    dbSNP
  • rs55853803
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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