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NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) AND Ventricular tachycardia

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000058305.4

Allele description [Variation Report for NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)]

NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)

Gene:
KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
HGVS:
  • NC_000017.11:g.70175283C>T
  • NG_008798.1:g.10749C>T
  • NM_000891.3:c.244C>TMANE SELECT
  • NP_000882.1:p.Arg82Trp
  • NP_000882.1:p.Arg82Trp
  • LRG_328t1:c.244C>T
  • LRG_328:g.10749C>T
  • LRG_328p1:p.Arg82Trp
  • NC_000017.10:g.68171424C>T
  • NM_000891.2:c.244C>T
Protein change:
R82W
Links:
dbSNP: rs199473373
NCBI 1000 Genomes Browser:
rs199473373
Molecular consequence:
  • NM_000891.3:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ventricular tachycardia
Identifiers:
EFO: EFO_0005306; MONDO: MONDO:0005477; MedGen: C0042514; Human Phenotype Ontology: HP:0004756

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089825Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

Tester DJ, Arya P, Will M, Haglund CM, Farley AL, Makielski JC, Ackerman MJ.

Heart Rhythm. 2006 Jul;3(7):800-5. Epub 2006 Mar 28.

PubMed [citation]
PMID:
16818210

KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.

Eckhardt LL, Farley AL, Rodriguez E, Ruwaldt K, Hammill D, Tester DJ, Ackerman MJ, Makielski JC.

Heart Rhythm. 2007 Mar;4(3):323-9. Epub 2006 Nov 10.

PubMed [citation]
PMID:
17341397
PMCID:
PMC1868697
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089825.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This variant has been reported as associated with Ventricular tachycardia in the following publications (PMID:16818210;PMID:17341397). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Sep 29, 2024