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Single allele AND Autosomal dominant polycystic kidney disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001254217.1

Allele description [Variation Report for Single allele]

Genes:
  • ABCG2:ATP binding cassette subfamily G member 2 (Junior blood group) [Gene - OMIM - HGNC]
  • FAM13A-AS1:FAM13A antisense RNA 1 [Gene - OMIM - HGNC]
  • GPRIN3:GPRIN family member 3 [Gene - OMIM - HGNC]
  • HERC3:HECT and RLD domain containing E3 ubiquitin protein ligase 3 [Gene - OMIM - HGNC]
  • HERC5:HECT and RLD domain containing E3 ubiquitin protein ligase 5 [Gene - OMIM - HGNC]
  • HERC6:HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 [Gene - OMIM - HGNC]
  • PYURF:PIGY upstream open reading frame [Gene - HGNC]
  • SPARCL1:SPARC like 1 [Gene - OMIM - HGNC]
  • DMP1:dentin matrix acidic phosphoprotein 1 [Gene - OMIM - HGNC]
  • DSPP:dentin sialophosphoprotein [Gene - OMIM - HGNC]
  • FAM13A:family with sequence similarity 13 member A [Gene - OMIM - HGNC]
  • HSD17B11:hydroxysteroid 17-beta dehydrogenase 11 [Gene - OMIM - HGNC]
  • HSD17B13:hydroxysteroid 17-beta dehydrogenase 13 [Gene - OMIM - HGNC]
  • IBSP:integrin binding sialoprotein [Gene - OMIM - HGNC]
  • KLHL8:kelch like family member 8 [Gene - OMIM - HGNC]
  • MEPE:matrix extracellular phosphoglycoprotein [Gene - OMIM - HGNC]
  • NAP1L5:nucleosome assembly protein 1 like 5 [Gene - OMIM - HGNC]
  • NUDT9:nudix hydrolase 9 [Gene - OMIM - HGNC]
  • PIGY:phosphatidylinositol glycan anchor biosynthesis class Y [Gene - OMIM - HGNC]
  • PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
  • PPM1K:protein phosphatase, Mg2+/Mn2+ dependent 1K [Gene - OMIM - HGNC]
  • SPP1:secreted phosphoprotein 1 [Gene - OMIM - HGNC]
  • SNCA:synuclein alpha [Gene - OMIM - HGNC]
  • TIGD2:tigger transposable element derived 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q22.1
Genomic location:
Chr4: 88075149 - 90714489 (on Assembly GRCh37)
HGVS:
NC_000004.11:g.88075149_90714489del

Condition(s)

Name:
Autosomal dominant polycystic kidney disease (ADPKD)
Identifiers:
MONDO: MONDO:0004691; MedGen: C0085413

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001430286Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2019) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research, SCV001430286.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022