TACC2 V2718I - 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:

TACC2 V2718I

(TACC2 Val2718Ile)


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

  • A @ chr10:123996934: 0.1% (9/10758) in EVS
  • A @ chr10:123986923: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (9/10758)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr10:123996934

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr10:123996934

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr10:123986924

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr10:123986924

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr10:123986924

 

Other external references
 

    dbSNP
  • rs2295878
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.778 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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