CUBN E3002G - 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:

CUBN E3002G

(CUBN Glu3002Gly)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Possibly damaging 0.367
SIFT: Affect protein function 0.01
GVGD: GV 44.60; GD 75.33; Class C15
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.21);
PolyPhen=possibly_damaging(0.367);
Condel=neutral(0.429)
Mutation Tasting Prediction: Disease causing, P value: 0.953173; protein features (might be) affected (aa 2920-3035 DOMAIN CUB 22 gets lost)

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 @ chr10:16918997: 14.0% (1503/10758) in EVS
  • C @ chr10:16959002: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 14.0% (1503/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr10:16918997

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr10:16918997

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr10:16918997

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr10:16918997

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr10:16918997

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr10:16918997

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr10:16918997

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr10:16918997

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr10:16959003

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr10:16959003

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr10:16959003

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr10:16959003

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr10:16959003

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr10:16959003

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr10:16959003

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr10:16959003

 

Other external references
 

    dbSNP
  • rs1801240
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (7 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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