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NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs) AND Polycystic kidney disease 4

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001542751.2

Allele description [Variation Report for NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs)]

NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs)

Gene:
PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p12.2
Genomic location:
Preferred name:
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs)
HGVS:
  • NC_000006.12:g.51885879_51885880dup
  • NG_008753.1:g.206746_206747dup
  • NM_138694.4:c.7202_7203dupMANE SELECT
  • NM_170724.3:c.7202_7203dup
  • NP_619639.3:p.Gly2402fs
  • NP_733842.2:p.Gly2402fs
  • NC_000006.11:g.51750677_51750678dup
Protein change:
G2402fs
Links:
dbSNP: rs2127551949
NCBI 1000 Genomes Browser:
rs2127551949
Molecular consequence:
  • NM_138694.4:c.7202_7203dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_170724.3:c.7202_7203dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001760183Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760183.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024