NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) AND Polycystic kidney disease 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 5, 2020
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:: RCV001095618.1

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:: 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001251255	Cavalleri Lab, Royal College of Surgeons in Ireland	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 5, 2020)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001251255

Cavalleri Lab, Royal College of Surgeons in Ireland

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 5, 2020)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

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 Cavalleri Lab, Royal College of Surgeons in Ireland, SCV001251255.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

PVS1, PM2, PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine