TMEM43 K168N - 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:

TMEM43 K168N

(TMEM43 Lys168Asn)


Short summary

 

Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.47);
PolyPhen=possibly_damaging(0.309);
Condel=neutral(0.323)
Mutation Tasting Prediction: Polymorphism p value: 0.321352; protein features (might be) affected (Detail: aa 53-313 TOPO_DOMAIN Lumenal (potential) gets lost).
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 93.88; Class C65
Multi-alignment of Q9BTV4.1 transmembrane protein 43 [Homo sapiens] with: XP_003265059.1 [Nomascus leucogenys] XP_001157301.1 [Pan troglodytes] NP_001125873.1 [Pongo abelii] XP_001091243.1 [Macaca mulatta] XP_002758731.1 [Callithrix jacchus] XP_002920733.1 [Ailuropoda melanoleuca] XP_541751.2 [Canis familiaris] EFB19918.1 [Ailuropoda melanoleuca] XP_001489843.2 [Equus caballus] XP_002713222.1 [Oryctolagus cuniculus]

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 @ chr3:14174427: 28.7% (3087/10758) in EVS
  • T @ chr3:14149427: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 28.7% (3087/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr3:14174427

 

 

 

 

 

 

 

 

 

 

 

 

 

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr3:14149428

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr3:14149428

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr3:14149428

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr3:14149428

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr3:14149428

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr3:14149428

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr3:14149428

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr3:14149428

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr3:14149428

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr3:14149428

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr3:14149428

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr3:14149428

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr3:14149428

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr3:14149428

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr3:14149428

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr3:14149428

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr3:14149428

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr3:14149428

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr3:14149428

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr3:14149428

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr3:14149428

 

GS20509 - var-GS20509-1100-36-ASM
hom T @ chr3:14149428

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr3:14149428

 

NA12878

 

Other external references
 

    dbSNP
  • rs4685076
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TMEM43 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TMEM43
    PolyPhen-2
  • Score: 0.064 (benign)
    Web search results (3 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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