TACC2 L2261H - 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.

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Curation:
Currentness:

TACC2 L2261H

(TACC2 Leu2261His)


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 @ chr10:123970722: 9.0% (973/10758) in EVS
  • A @ chr10:123960711: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (973/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr10:123970722

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:123970722

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr10:123970722

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr10:123970722

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr10:123970722

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom A @ chr10:123970722

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr10:123970722

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr10:123970722

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr10:123970722

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr10:123970722

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr10:123960712

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:123960712

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr10:123960712

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr10:123960712

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr10:123960712

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr10:123960712

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr10:123960712

 

Other external references
 

    dbSNP
  • rs2295876
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.889 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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