BCAT2 T186R - 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:

BCAT2 T186R

(BCAT2 Thr186Arg)


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

  • C @ chr19:49303070: 14.4% (1496/10400) in EVS
  • C @ chr19:53994881: 6.6% (8/122) in GET-Evidence
  • Frequency shown in summary reports: 14.4% (1496/10400)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr19:49303070

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr19:49303070

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr19:49303070

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr19:49303070

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr19:49303070

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr19:49303070

 

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr19:49303070

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr19:49303070

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr19:49303070

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr19:53994882

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr19:53994882

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr19:53994882

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr19:53994882

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr19:53994882

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr19:53994882

 

NA12878

 

Other external references
 

    dbSNP
  • rs11548193
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.548 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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