COL4A3 D1269E - 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:

COL4A3 D1269E

(COL4A3 Asp1269Glu)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Unknown
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 44.60; Class C35
Variant Effect Predictor (Ensembl):
SIFT=tolerated(1);
PolyPhen=unknown(0)
Mutation Tasting Prediction: Polymorphism, P value: 0.871774; protein features (might be) affected (aa 43-1438 REGION Triple-helical region 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

  • A @ chr2:228163453: 4.8% (466/9676) in EVS
  • A @ chr2:227871696: 4.5% (5/110) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (466/9676)

Publications
 

Genomes
 

 

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr2:228163453

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr2:227871697

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr2:227871697

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr2:227871697

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr2:227871697

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr2:227871697

 

Other external references
 

    dbSNP
  • rs57611801
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the COL4A3 gene
    Collagen IV-Related Nephropathies (Alport Syndrome and Thin Base
    COL4A3 Alport Syndrome and Thin Basement Membrane Nephropathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL4A3
    PolyPhen-2
  • Score: 0.583 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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