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NM_000297.4(PKD2):c.1395T>A (p.Tyr465Ter) AND Polycystic kidney disease 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 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:
RCV003991132.2

Allele description [Variation Report for NM_000297.4(PKD2):c.1395T>A (p.Tyr465Ter)]

NM_000297.4(PKD2):c.1395T>A (p.Tyr465Ter)

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.1395T>A (p.Tyr465Ter)
HGVS:
  • NC_000004.12:g.88046717T>A
  • NG_008604.1:g.44050T>A
  • NM_000297.4:c.1395T>AMANE SELECT
  • NP_000288.1:p.Tyr465Ter
  • NC_000004.11:g.88967869T>A
  • NR_156488.2:n.1494T>A
Protein change:
Y465*
Molecular consequence:
  • NR_156488.2:n.1494T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000297.4:c.1395T>A - nonsense - [Sequence Ontology: SO:0001587]
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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004808452MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Pathogenic
(Dec 3, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808452.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PVS1, PM2_SUP, PP4 (ACMG Version 3)

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

Last Updated: Jun 2, 2024