COL4A3 E162G - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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COL4A3 E162G

(COL4A3 Glu162Gly)


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Short summary

 

Variant evidence
Computational 2

PolyPhen: Benign, score 0.004
SIFT: Tolerated 1.00
GVGD: GV 228.84; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(1);
PolyPhen=unknown(0)
Mutation Tasting Prediction: Polymorphism, P value: 0. 999960; protein features (might be) affected (aa 43-1438 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

  • G @ chr2:228113175: 77.4% (7350/9502) in EVS
  • G @ chr2:227821418: 78.9% (101/128) in GET-Evidence
  • Frequency shown in summary reports: 77.4% (7350/9502)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr2:228113175

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr2:228113175

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr2:228113175

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr2:228113175

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr2:228113175

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr2:228113175

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr2:228113175

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom G @ chr2:228113175

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr2:228113175

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr2:228113175

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom G @ chr2:228113175

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr2:228113175

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:228113175

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr2:228113175

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr2:228113175

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr2:228113175

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr2:228113175

 

Added in this revision:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr2:228113175

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr2:228113175

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr2:228113175

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr2:227821419

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chr2:227821419

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr2:227821419

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr2:227821419

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr2:227821419

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr2:227821419

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr2:227821419

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr2:227821419

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr2:227821419

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr2:227821419

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr2:227821419

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr2:227821419

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr2:227821419

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr2:227821419

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr2:227821419

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr2:227821419

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr2:227821419

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr2:227821419

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr2:227821419

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr2:227821419

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr2:227821419

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr2:227821419

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr2:227821419

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr2:227821419

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr2:227821419

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr2:227821419

 

GS19649 - var-GS19649-1100-36-ASM
hom G @ chr2:227821419

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr2:227821419

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chr2:227821419

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr2:227821419

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr2:227821419

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr2:227821419

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr2:227821419

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr2:227821419

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr2:227821419

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr2:227821419

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr2:227821419

 

Other external references
 

    dbSNP
  • rs6436669
    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

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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