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NM_138694.4(PKHD1):c.10853del (p.Arg3618fs) AND Polycystic kidney disease 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2022
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:
RCV004555295.2

Allele description [Variation Report for NM_138694.4(PKHD1):c.10853del (p.Arg3618fs)]

NM_138694.4(PKHD1):c.10853del (p.Arg3618fs)

Gene:
PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_138694.4(PKHD1):c.10853del (p.Arg3618fs)
HGVS:
  • NC_000006.12:g.51659273del
  • NG_008753.1:g.433353del
  • NM_138694.4:c.10853delMANE SELECT
  • NP_619639.3:p.Arg3618fs
  • NC_000006.11:g.51524071del
Protein change:
R3618fs
Molecular consequence:
  • NM_138694.4:c.10853del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Polycystic kidney disease 4 (PKD4)
Synonyms:
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Identifiers:
MONDO: MONDO:0033004; MedGen: C4540575; OMIM: 263200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005044268MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Pathogenic
(Nov 22, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044268.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PVS1, PM2_SUP, PM3_SUP, PP4 (ACMG Version 4)

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

Last Updated: Jun 2, 2024