NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) AND Polycystic kidney disease 2

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Feb 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001000584.3

Allele description [Variation Report for NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)]

NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)

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.2398A>C (p.Met800Leu)
HGVS:
  • NC_000004.12:g.88067937A>C
  • NG_008604.1:g.65270A>C
  • NM_000297.4:c.2398A>CMANE SELECT
  • NP_000288.1:p.Met800Leu
  • NC_000004.11:g.88989089A>C
  • NM_000297.3:c.2398A>C
  • NR_156488.2:n.2376A>C
  • Q13563:p.Met800Leu
Protein change:
M800L
Links:
UniProtKB: Q13563#VAR_058829; dbSNP: rs2234917
NCBI 1000 Genomes Browser:
rs2234917
Molecular consequence:
  • NM_000297.4:c.2398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156488.2:n.2376A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Polycystic kidney disease 2 (PKD2)
Synonyms:
POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II; POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Identifiers:
MONDO: MONDO:0013131; MedGen: C2751306; OMIM: 613095

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001157562ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Feb 27, 2020)
germlineclinical testing

Citation Link,

SCV001316901Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001157562.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001316901.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jun 23, 2021

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