COL2A1 E142D - 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:

COL2A1 E142D

(COL2A1 Glu142Asp)


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

  • A @ chr12:48391657: 3.7% (402/10758) in EVS
  • A @ chr12:46677923: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 3.7% (402/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr12:48391657

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr12:48391657

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr12:48391657

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr12:48391657

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr12:48391657

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr12:48391657

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr12:46677924

 

Other external references
 

    dbSNP
  • rs34392760
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the COL2A1 gene
    Stickler Syndrome
    Achondrogenesis Type 2
    Avascular Necrosis of Femoral Head, Primary
    COL2A1-Associated Stickler Syndrome
    COL2A1-Related Stickler Syndrome
    Kniest Dysplasia
    Osteoarthritis with Mild Chondrodysplasia
    Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
    Spondyloepimetaphyseal Dysplasia, Strudwick Type
    Spondyloepiphyseal Dysplasia
    Spondyloepiphyseal Dysplasia, Congenita
    Spondyloperipheral Dysplasia
    Type II Collagenopathies
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL2A1
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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