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NM_000297.4(PKD2):c.1116dup (p.Asp373fs) AND Polycystic kidney disease 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 8, 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:
RCV001533140.2

Allele description [Variation Report for NM_000297.4(PKD2):c.1116dup (p.Asp373fs)]

NM_000297.4(PKD2):c.1116dup (p.Asp373fs)

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.1116dup (p.Asp373fs)
HGVS:
  • NC_000004.12:g.88043254dup
  • NG_008604.1:g.40587dup
  • NM_000297.4:c.1116dupMANE SELECT
  • NP_000288.1:p.Asp373fs
  • NC_000004.11:g.88964406dup
  • NR_156488.2:n.1215dup
Protein change:
D373fs
Links:
dbSNP: rs2110112037
NCBI 1000 Genomes Browser:
rs2110112037
Molecular consequence:
  • NM_000297.4:c.1116dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_156488.2:n.1215dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV001745895Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 8, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

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 Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV001745895.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The detected variant has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or in the literature. It leads to a frame shift and therefore, in all probability, to a loss of function of the corresponding protein. The variant is to be regarded as a "probably pathogenic variant" at this point in time (ACMG-criteria).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023