U.S. flag

An official website of the United States government

NM_000297.4(PKD2):c.586G>A (p.Gly196Arg) AND Polycystic kidney disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001292452.2

Allele description [Variation Report for NM_000297.4(PKD2):c.586G>A (p.Gly196Arg)]

NM_000297.4(PKD2):c.586G>A (p.Gly196Arg)

Genes:
LOC129992813:ATAC-STARR-seq lymphoblastoid silent region 15559 [Gene]
PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_000297.4(PKD2):c.586G>A (p.Gly196Arg)
HGVS:
  • NC_000004.12:g.88008319G>A
  • NG_008604.1:g.5652G>A
  • NM_000297.4:c.586G>AMANE SELECT
  • NP_000288.1:p.Gly196Arg
  • NC_000004.11:g.88929471G>A
  • NR_156488.2:n.685G>A
Protein change:
G196R
Links:
dbSNP: rs756765752
NCBI 1000 Genomes Browser:
rs756765752
Molecular consequence:
  • NM_000297.4:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156488.2:n.685G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Polycystic kidney disease
Synonyms:
Polycystic kidney dysplasia; Kidney, Polycystic
Identifiers:
MONDO: MONDO:0020642; MeSH: D007690; MedGen: C0022680; OMIM: PS173900; Human Phenotype Ontology: HP:0000113

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001480998Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001480998.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PKD2 p.Gly196Arg variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, LOVD 3.0, ADPKD Mutation Database, PKD1-LOVD, Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Gly196 residue is conserved in mammals but not in more distantly related organisms however four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Sep 16, 2024