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NM_000297.4(PKD2):c.405del (p.Ala136fs) 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:
RCV001095638.1

Allele description [Variation Report for NM_000297.4(PKD2):c.405del (p.Ala136fs)]

NM_000297.4(PKD2):c.405del (p.Ala136fs)

Genes:
LOC129992813:ATAC-STARR-seq lymphoblastoid silent region 15559 [Gene]
PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_000297.4(PKD2):c.405del (p.Ala136fs)
HGVS:
  • NC_000004.12:g.88008138del
  • NG_008604.1:g.5471del
  • NM_000297.4:c.405delMANE SELECT
  • NP_000288.1:p.Ala136fs
  • NC_000004.11:g.88929290del
  • NM_000297.4:c.405delCMANE SELECT
  • NR_156488.2:n.504del
  • p.G135fs
Protein change:
A136fs
Links:
dbSNP: rs1726245372
NCBI 1000 Genomes Browser:
rs1726245372
Molecular consequence:
  • NM_000297.4:c.405del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_156488.2:n.504del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001251279Cavalleri Lab, Royal College of Surgeons in Ireland
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 5, 2020) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Cavalleri Lab, Royal College of Surgeons in Ireland, SCV001251279.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

PVS1, PM2, PP4

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

Last Updated: Oct 14, 2023