EDN1 K198N - 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:

EDN1 K198N

(EDN1 Lys198Asn)


Short summary

Associated with lower HDL cholesterol levels in women.

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.034
SIFT: Tolerated 0.19
GVGD: GV 56.87; GD 39.26; Class C0
Variant Effect Predictor (Ensembl):
SIFT=deleterious(0.02);
PolyPhen=benign(0.034);
Condel=deleterious(0.866)
Mutation Tasting Prediction: Polymorphism, P value: 0.999975
protein features (might be) affected (aa 74-212 PROPEP /FTId=PRO_0000008061 gets lost)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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 @ chr6:12296255: 20.6% (2220/10758) in EVS
  • T @ chr6:12404240: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 20.6% (2220/10758)

Publications
 

Geese WJ, Achanzar W, Rubin C, Hariharan N, Cheng P, Tomlinson L, Ordway N, Dracopoli NC, Delmonte T, Hui L, Krishnan B, Cosma G, Ranade K. Genetic and gene expression studies implicate renin and endothelin-1 in edema caused by peroxisome proliferator-activated receptor gamma agonists. Pharmacogenet Genomics. 2008 Oct;18(10):903-10. PubMed PMID: 18794727.

 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr6:12296255

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr6:12296255

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr6:12296255

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr6:12296255

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr6:12296255

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr6:12404241

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr6:12404241

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr6:12404241

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr6:12404241

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr6:12404241

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr6:12404241

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr6:12404241

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr6:12404241

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr6:12404241

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr6:12404241

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr6:12404241

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr6:12404241

 

Other external references
 

    dbSNP
  • rs5370
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Diabetes Mellitus; Edema; Hyperlipidemias]
    [muraglitazar]
    The G/G (Lys/Lys) genotype of this SNP was associated with reduced risk of edema resulting from treatment with muraglitazar (BMS-298585) relative to the T/T (Asn/Asn) genotype. The test population consisted of patients with diabetes or hyperlipidemia.
    www.ncbi.nlm.nih.gov/pubmed/18794727
    PolyPhen-2
  • Score: 0.002 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in