PKD1 I4045V - 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:

PKD1 I4045V

(PKD1 Ile4045Val)


Short summary

 

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.58);
PolyPhen=benign(0);
Condel=neutral(0.417) Mutation Tasting prediction: Polymorphism p value: 0.999489
protein features (might be) affected (TRANSMEM Helical (potential) gets lost)
GVGD: GV 48.95; GD 0.00; Class C0
Multi-alignment of P98161.3 [Homo sapiens] with: NP_001006651.1 [Canis lupus familiaris] CBZ01637.1 [Sus scrofa] XP_003124778.1 [Sus scrofa] CBZ01638.1 [Sus scrofa] AAM22956.1 [Canis lupus familiaris] XP_002727800.1 [Rattus norvegicus] XP_002727799.1 [Rattus norvegicus] EDL22340.1 [Mus musculus] O08852.1 [Mus musculus] AAG33986.1 [Rattus norvegicus]

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

  • C @ chr16:2140680: 31.3% (3351/10722) in EVS
  • C @ chr16:2080680: 25.0% (25/100) in GET-Evidence
  • Frequency shown in summary reports: 31.3% (3351/10722)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr16:2140680

 

 

 

 

 

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr16:2080681

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr16:2080681

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr16:2080681

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr16:2080681

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr16:2080681

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr16:2080681

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr16:2080681

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr16:2080681

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr16:2080681

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr16:2080681

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr16:2080681

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr16:2080681

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr16:2080681

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr16:2080681

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr16:2080681

 

NA12878

 

Other external references
 

    dbSNP
  • rs10960
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PKD1 gene
    Polycystic Kidney Disease 1, Autosomal Dominant
    Polycystic Kidney Disease, Autosomal Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD1
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (2 hits -- see all)
  • BMC Medical Genetics
    The disease is caused by mutations of the PKD1 (affecting roughly 85% of ... Conclusion: Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen ...
    www.biomedcentral.com/content/pdf/1471-2350-10-78.pdf
  • New mutations in the PKD1 gene in Czech population with ...
    Mutation analysis of the PKD1 gene is complicated by the presence of ... Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new ...
    biomedcentral.com/content/download/xml/1471-2350-10-78.xml

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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