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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PKD1 I4045V

(PKD1 Ile4045Val)

Short summary


Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.58);
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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)












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




Other external references

  • rs10960
  • GeneTests records for the PKD1 gene
    Polycystic Kidney Disease 1, Autosomal Dominant
    Polycystic Kidney Disease, Autosomal Dominant
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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