SH3TC2 A468S - 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 A468S

(SH3TC2 Ala468Ser)


Short summary

 

Variant evidence
Computational 4

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.89);
PolyPhen=benign(0.175);
Condel=neutral(0.172)
Mutation Tasting Prediction: Polymorphism p value: 0.997169; Protein affected: N/A
GVGD: GV 58.02; GD 49.72; Class C0
Multi-alignment of Q8TF17.2 [Homo sapiens] with: XP_527069.2 [Pan troglodytes] XP_002816108.1 [Pongo abelii] XP_001162001.1 [Pan troglodytes] XP_003266664.1 [Nomascus leucogenys] XP_001104761.1 [Macaca mulatta] XP_001104537.2 [Macaca mulatta] XP_002744397.1 [Callithrix jacchus] XP_002689331.1 [Bos taurus] XP_616288.3 [Bos taurus] XP_002710344.1 [Oryctolagus cuniculus]

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 @ chr5:148407893: 24.1% (2598/10758) in EVS
  • A @ chr5:148388085: 27.3% (35/128) in GET-Evidence
  • Frequency shown in summary reports: 24.1% (2598/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr5:148407893

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr5:148407893

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr5:148407893

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr5:148407893

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr5:148407893

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr5:148407893

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr5:148407893

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr5:148407893

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr5:148388086

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr5:148388086

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr5:148388086

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr5:148388086

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr5:148388086

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr5:148388086

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr5:148388086

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr5:148388086

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr5:148388086

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr5:148388086

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr5:148388086

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr5:148388086

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr5:148388086

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr5:148388086

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr5:148388086

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr5:148388086

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr5:148388086

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr5:148388086

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr5:148388086

 

NA12878

 

Other external references
 

    dbSNP
  • rs6875902
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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