NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer) AND Polycystic kidney disease 2

Clinical significance:Likely pathogenic (Last evaluated: May 20, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001029924.1

Allele description [Variation Report for NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)]

NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)

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.693del (p.Leu231_Ile232insTer)
HGVS:
  • NC_000004.12:g.88019555del
  • NG_008604.1:g.16888del
  • NM_000297.4:c.693delMANE SELECT
  • NP_000288.1:p.Leu231_Ile232insTer
  • NC_000004.11:g.88940707del
  • NM_000297.3:c.693delC
  • NR_156488.2:n.792del
Links:
dbSNP: rs1578118371
NCBI 1000 Genomes Browser:
rs1578118371
Molecular consequence:
  • NM_000297.4:c.693del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_156488.2:n.792del - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001192720Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedLikely pathogenic
(May 20, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV001192720.1

#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: Oct 7, 2021

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