PKD1 I4045V - GET-Evidence

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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
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr16:2140680

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr16:2140680

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr16:2140680

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het C @ chr16:2080681

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr16:2140680

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het C @ chr16:2140680

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr16:2140680

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr16:2140680

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr16:2140680

 

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

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het C @ chr16:2080681

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr16:2140680

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr16:2140680

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
het C @ chr16:2140680

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het 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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