COL6A1 S890L - 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:

COL6A1 S890L

(COL6A1 Ser890Leu)


Short summary

 

Variant evidence
Computational 2

PolyPhen: possibly damaging 0.657
SIFT: Tolerated 0.25
GVGD: GV 137.08; GD 58.10; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.09);
PolyPhen=possibly_damaging(0.636);
Condel=deleterious(0.768)
Mutation Tasting Prediction: Polymorphism, P value: 0.929523; protein features (might be) affected (aa 593-1029 REGION C-terminal globular domain gets lost; aa 829-1021 DOMAIN VWFA 3 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

  • T @ chr21:47423509: 15.9% (1713/10754) in EVS
  • T @ chr21:46247936: 8.1% (7/86) in GET-Evidence
  • Frequency shown in summary reports: 15.9% (1713/10754)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr21:47423509

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr21:47423509

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr21:47423509

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr21:47423509

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr21:47423509

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr21:47423509

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr21:47423509

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr21:47423509

 

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr21:46247937

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr21:46247937

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr21:46247937

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr21:46247937

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr21:46247937

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr21:46247937

 

NA12878

 

Other external references
 

    dbSNP
  • rs13051496
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs71336107
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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