NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile) AND Long QT syndrome 2

Clinical significance:Pathogenic (Last evaluated: Apr 20, 2004)

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:
RCV000015522.25

Allele description [Variation Report for NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile)]

NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile)
HGVS:
  • NC_000007.14:g.150948866T>A
  • NG_008916.1:g.34061A>T
  • NM_000238.3:c.2582A>T
  • NM_172057.2:c.1562A>T
  • NP_000229.1:p.Asn861Ile
  • NP_742054.1:p.Asn521Ile
  • LRG_288t1:c.2582A>T
  • LRG_288t3:c.1562A>T
  • LRG_288:g.34061A>T
  • LRG_288p1:p.Asn861Ile
  • LRG_288p3:p.Asn521Ile
  • NC_000007.13:g.150645954T>A
Protein change:
N521I; ASN861ILE
Links:
OMIM: 152427.0021; dbSNP: 121912513
NCBI 1000 Genomes Browser:
rs121912513
Molecular consequence:
  • NM_000238.3:c.2582A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 2 (LQT2)
Synonyms:
LONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO
Identifiers:
MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688
Prevalence:
1-5 / 10 000 101016768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035787OMIMno assertion criteria providedPathogenic
(Apr 20, 2004)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.

Circulation. 2000 Sep 5;102(10):1178-85.

PubMed [citation]
PMID:
10973849

Compound mutations: a common cause of severe long-QT syndrome.

Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC.

Circulation. 2004 Apr 20;109(15):1834-41. Epub 2004 Mar 29.

PubMed [citation]
PMID:
15051636

Details of each submission

From OMIM, SCV000035787.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with long QT syndrome (613688), Splawski et al. (2000) identified heterozygosity for a 2582A-T transversion in exon 10 of the KCNH2 gene, resulting in an asn861-to-ile (N861I) substitution.

In a female patient who had a QTc of 460 ms and suffered cardiac arrest, Westenskow et al. (2004) identified triallelic digenic mutations: heterozygosity for an N861I substitution in the KCNH2 gene and homozygosity for a missense mutation in the KCNE1 gene (D85N; 176261.0005).

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

Last Updated: Jul 27, 2016