ATXN3 V212M - 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:

ATXN3 V212M

(ATXN3 Val212Met)


Short summary

 

Variant evidence
Computational -

PolyPhen2: Benign, score 0.001
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 20.52; Class C15
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.24);
PolyPhen=benign(0.001);
Condel=deleterious(0.636)
Mutation Tasting Prediction: Polymorphism, P value: 0.996537; Protein features: N/A

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 @ chr14:92548785: 27.6% (2969/10758) in EVS
  • T @ chr14:91618537: 29.7% (38/128) in GET-Evidence
  • Frequency shown in summary reports: 27.6% (2969/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr14:92548785

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr14:92548785

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr14:92548785

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr14:92548785

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr14:92548785

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr14:92548785

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr14:92548785

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr14:92548785

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr14:92548785

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom T @ chr14:92548785

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr14:92548785

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr14:91618538

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr14:91618538

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr14:91618538

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr14:91618538

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr14:91618538

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr14:91618538

 

GS18517 - var-GS18517-1100-36-ASM
hom T @ chr14:91618538

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr14:91618538

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr14:91618538

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr14:91618538

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr14:91618538

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr14:91618538

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr14:91618538

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr14:91618538

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr14:91618538

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr14:91618538

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr14:91618538

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr14:91618538

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr14:91618538

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr14:91618538

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr14:91618538

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr14:91618538

 

Other external references
 

    dbSNP
  • rs1048755
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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