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NM_020803.5(KLHL8):c.*2476_*2477del AND Catecholaminergic polymorphic ventricular tachycardia

Germline classification:
Uncertain significance (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:
RCV004733989.1

Allele description [Variation Report for NM_020803.5(KLHL8):c.*2476_*2477del]

NM_020803.5(KLHL8):c.*2476_*2477del

Gene:
KLHL8:kelch like family member 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_020803.5(KLHL8):c.*2476_*2477del
HGVS:
  • NC_000004.12:g.87161060_87161061del
  • NM_001292003.2:c.*2476_*2477del
  • NM_001292006.2:c.*2476_*2477del
  • NM_001292007.2:c.*2476_*2477del
  • NM_020803.5:c.*2476_*2477delMANE SELECT
  • NC_000004.11:g.88082212_88082213del
  • NM_020803.5:c.*2476_*2477delAAMANE SELECT
  • NR_120447.2:n.3955_3956del
Molecular consequence:
  • NM_001292003.2:c.*2476_*2477del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001292006.2:c.*2476_*2477del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001292007.2:c.*2476_*2477del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_020803.5:c.*2476_*2477del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_120447.2:n.3955_3956del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Catecholaminergic polymorphic ventricular tachycardia (CVPT)
Synonyms:
Familial polymorphic ventricular tachycardia; Catecholamine-induced polymorphic ventricular tachycardia; Polymorphic catecholergic ventricular tachycardia
Identifiers:
MONDO: MONDO:0017990; MedGen: C5574922; Orphanet: 3286; OMIM: PS604772

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005367915Genetics and Genomics Program, Sidra Medicine
no assertion criteria provided
Uncertain significanceunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genetics and Genomics Program, Sidra Medicine, SCV005367915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

The c.2476_2477delAA missense variant in KLHL8 is not reported in gnomAD (PM2). ACMG codes: PM2.

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

Last Updated: Oct 13, 2024