PKD2 A190T - GET-Evidence

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

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Curation:
Currentness:

PKD2 A190T

(PKD2 Ala190Thr)


Short summary

Reported causative for polycystic kidney disease, but later reports claim that it is benign.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

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

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr4:88929453: 0.3% (8/2660) in EVS
  • A @ chr4:89148476: 4.1% (5/122) in GET-Evidence
  • Frequency shown in summary reports: 0.3% (8/2660)

Publications
 

Zhang DY, Sun TM, Zhang SZ, Tang B, Dai B, Zhang WL, Mei CL. [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):211-4. Chinese. PubMed PMID: 15192819.

Variant is associated with Polycystic kidney disease.

Chung W, Kim H, Hwang YH, Kim SY, Ko AR, Ro H, Lee KB, Lee JS, Oh KH, Ahn C. PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning. Clin Genet. 2006 Dec;70(6):502-8. Erratum in: Clin Genet. 2007 Feb;71(2):193. PubMed PMID: 17100995.

The variant is reported benign.

Genomes
 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr4:88929453

 

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr4:89148477

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr4:89148477

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr4:89148477

 

Other external references
 

    dbSNP
  • rs117078377
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PKD2 gene
    Polycystic Kidney Disease, Autosomal Dominant
    Polycystic Kidney Disease 2, Autosomal Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD2
    PolyPhen-2
  • Score: 0.137 (benign)
    Web search results (4 hits -- see all)
  • 네이버 전문정보
    The A190T Variation in Human Polycystin 2, Previously Known as a M... | 2008년. ADPKD, PKD2, A190T variation, ADPKD-related diseases, nonsynonymous cSNP, mutation ...
    academic.naver.com/search.nhn?field=3&dir_id=1&...
  • Evaluating the Clinical Utility of a Molecular Genetic Test ...
    M800L (JHU559) did not segregate with disease in a PKD2 family [42]. A second PKD2 substitution, A190T, was identified in 3.2% of normal chromosomes. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2085355
  • Pkd mutations and evaluation of same - Patent application ...
    ... novel mutations in a PKD1 and/or PKD2 gene that have been determined to be ... on a PKD2 gene product by assaying for expression of said PKD2 gene product. ...
    www.faqs.org/patents/app/20100047785
  • Mutations of the PKD2 Gene in Korean Patients with Autosomal ...
    Research Articles : The A190T Variation in Human Polycystin 2, ... Mutations of the PKD2 Gene in Korean Patients with Autosomal Dominant Polycystic Kidney Disease ...
    www.reportworld.co.kr/paper/view.html?no=2554045

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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