PKD1 F3066L - 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:

PKD1 F3066L

(PKD1 Phe3066Leu)


Short summary

 

Variant evidence
Computational 1

SIFT: Affect protein function 0.000
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.24);
PolyPhen=probably_damaging(0.92);
Condel=deleterious(0.903)
Mutation Tasting prediction: Polymorphism p value: 0.811719; Protein features (might be) affected (TOPO_DOM Extracellular (Potential) gets lost).
GVGD: GV 0.00; GD 21.82; Class C15
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

  • G @ chr16:2152387: 16.1% (1652/10268) in EVS
  • GG @ chr16:2092387: 7.5% (6/80) in GET-Evidence
  • Frequency shown in summary reports: 16.1% (1652/10268)

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GG @ chr16:2152387

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het GG @ chr16:2152387

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GG @ chr16:2152387

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GG @ chr16:2152387

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GG @ chr16:2152387

 

GS19025 - var-GS19025-1100-36-ASM
het GG @ chr16:2092388

 

GS19701 - var-GS19701-1100-36-ASM
het GG @ chr16:2092388

 

GS19704 - var-GS19704-1100-36-ASM
het GG @ chr16:2092388

 

GS21767 - var-GS21767-1100-36-ASM
het GG @ chr16:2092388

 

NA12878

 

Other external references
 

    dbSNP
  • rs9935834
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs9925969
    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: 0.996 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in