CDKN1B V109G - 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:

CDKN1B V109G

(CDKN1B Val109Gly)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.028
SIFT: Affect protein function 0.01
GVGD: GV 65.28; GD 60.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.38);
PolyPhen=benign(0.028);
Condel=neutral(0.245)
Mutation Tasting Prediction: Polymorphism, P value: 0.546164; protein features (might be) affected.

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

  • G @ chr12:12871099: 39.3% (4226/10742) in EVS
  • G @ chr12:12762365: 42.2% (54/128) in GET-Evidence
  • Frequency shown in summary reports: 39.3% (4226/10742)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr12:12871099

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr12:12871099

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr12:12871099

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr12:12871099

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr12:12871099

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr12:12871099

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr12:12871099

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr12:12871099

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr12:12871099

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr12:12871099

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr12:12871099

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr12:12762366

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr12:12762366

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr12:12762366

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr12:12762366

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr12:12762366

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr12:12762366

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr12:12762366

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr12:12762366

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr12:12762366

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr12:12762366

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr12:12762366

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr12:12762366

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr12:12762366

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr12:12762366

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr12:12762366

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr12:12762366

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr12:12762366

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr12:12762366

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr12:12762366

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr12:12762366

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr12:12762366

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr12:12762366

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr12:12762366

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr12:12762366

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr12:12762366

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr12:12762366

 

Other external references
 

    dbSNP
  • rs2066827
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.004 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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