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NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 24, 2021
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:
RCV002557971.2

Allele description [Variation Report for NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)]

NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)

Genes:
LOC129992813:ATAC-STARR-seq lymphoblastoid silent region 15559 [Gene]
PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)
HGVS:
  • NC_000004.12:g.88007929_88007932dup
  • NG_008604.1:g.5262_5265dup
  • NM_000297.3:c.196_199dupGACC
  • NM_000297.4:c.196_199dupMANE SELECT
  • NP_000288.1:p.Pro67fs
  • NC_000004.11:g.88929081_88929084dup
  • NM_000297.4:c.195_196insGACCMANE SELECT
  • NR_156488.2:n.295_298dup
  • p.R65fs
Protein change:
P67fs
Links:
dbSNP: rs1726231891
NCBI 1000 Genomes Browser:
rs1726231891
Molecular consequence:
  • NM_000297.4:c.196_199dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_156488.2:n.295_298dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003595073Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 24, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H.

Hum Mutat. 2009 Feb;30(2):264-73. doi: 10.1002/humu.20842.

PubMed [citation]
PMID:
18837007

Details of each submission

From Ambry Genetics, SCV003595073.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.196_199dupGACC (p.P67Rfs*26) alteration, located in exon 1 (coding exon 1) of the PKD2 gene, consists of a duplication of GACC at position 196, causing a translational frameshift with a predicted alternate stop codon after 26 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been reported in a patient with autosomal dominant polycystic kidney disease (Tan, 2009). Based on the available evidence, this alteration is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024