TMEM67 I604V - GET-Evidence

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

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Curation:
Currentness:

TMEM67 I604V

(TMEM67 Ile604Val)


Short summary

Variants in this gene are associated with ciliopathy disease and related polycystic liver and kidney disease.

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.33);
PolyPhen=benign(0);
Condel=deleterious(0.676)
Mutation Tasting Prediction: Polymorphism p value: 0.999999; no protein features affected.
GVGD: GV 142.37; GD 0.00; Class C0
Multi-alignment of Q5HYA8.2 Meckelin isoform 1 [Homo sapiens] with: XP_528307.2 [Pan troglodytes] XP_002819322.1 [Pongo abelii] XP_002805487.1 [Macaca mulatta] XP_003268357.1 [Nomascus leucogenys] XP_002759121.1 [Callithrix jacchus] XP_001914990.1 [Equus caballus] NP_001192228.1 [Bos taurus] XP_002916654.1 [Ailuropoda melanoleuca] XP_544178.2 [Canis familiaris] EFB24622.1 [Ailuropoda melanoleuca]

Functional 2

See Otto EA et al. 2011 (21068128), Halbritter J et al. 2012 (23188109).

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 @ chr8:94808165: 63.8% (6858/10754) in EVS
  • Frequency shown in summary reports: 63.8% (6858/10754)

Publications
 

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. PubMed PMID: 21068128; PubMed Central PMCID: PMC3913043.

 

Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet. 2012 Dec;49(12):756-67. doi: 10.1136/jmedgenet-2012-100973. PubMed PMID: 23188109.

 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr8:94808165

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr8:94808165

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr8:94808165

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr8:94808165

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr8:94808165

 

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het G @ chr8:94877341

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr8:94808165

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr8:94808165

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr8:94808165

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr8:94808165

 

 

 

 

 

 

Other external references
 

    dbSNP
  • rs3134031
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TMEM67 gene
    Joubert Syndrome
    Meckel Syndrome
    TMEM67-Related Joubert Syndrome
    TMEM67-Related Meckel Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TMEM67

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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