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NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND Congenital long QT syndrome

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:
RCV000058010.4

Allele description [Variation Report for NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)]

NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)

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_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
HGVS:
  • NC_000007.14:g.150951552G>A
  • NG_008916.1:g.31375C>T
  • NM_000238.4:c.1841C>TMANE SELECT
  • NM_001204798.2:c.821C>T
  • NM_001406753.1:c.1553C>T
  • NM_001406755.1:c.1664C>T
  • NM_001406756.1:c.1553C>T
  • NM_001406757.1:c.1541C>T
  • NM_172056.3:c.1841C>T
  • NM_172057.3:c.821C>T
  • NP_000229.1:p.Ala614Val
  • NP_000229.1:p.Ala614Val
  • NP_001191727.1:p.Ala274Val
  • NP_001393682.1:p.Ala518Val
  • NP_001393684.1:p.Ala555Val
  • NP_001393685.1:p.Ala518Val
  • NP_001393686.1:p.Ala514Val
  • NP_742053.1:p.Ala614Val
  • NP_742053.1:p.Ala614Val
  • NP_742054.1:p.Ala274Val
  • NP_742054.1:p.Ala274Val
  • LRG_288t1:c.1841C>T
  • LRG_288t2:c.1841C>T
  • LRG_288t3:c.821C>T
  • LRG_288:g.31375C>T
  • LRG_288p1:p.Ala614Val
  • LRG_288p2:p.Ala614Val
  • LRG_288p3:p.Ala274Val
  • NC_000007.13:g.150648640G>A
  • NM_000238.2:c.1841C>T
  • NM_000238.3:c.1841C>T
  • NM_172056.2:c.1841C>T
  • NM_172057.2:c.821C>T
  • NR_176254.1:n.2249C>T
  • NR_176255.1:n.1122C>T
  • Q12809:p.Ala614Val
Protein change:
A274V; ALA614VAL
Links:
UniProtKB: Q12809#VAR_008931; OMIM: 152427.0026; dbSNP: rs199472944
NCBI 1000 Genomes Browser:
rs199472944
Molecular consequence:
  • NM_000238.4:c.1841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089530Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (16)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, Haneda N, Nakano O, Shibata A, Sawayama T, Kasai H, Yazaki Y, Nakamura Y.

Circulation. 1997 Feb 4;95(3):565-7.

PubMed [citation]
PMID:
9024139

Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

Satler CA, Vesely MR, Duggal P, Ginsburg GS, Beggs AH.

Hum Genet. 1998 Mar;102(3):265-72.

PubMed [citation]
PMID:
9544837
See all PubMed Citations (16)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089530.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (16)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:9024139;PMID:9544837;PMID:9693036;PMID:9927399;PMID:10560244;PMID:11854117;PMID:15840476;PMID:16432067;PMID:18441445;PMID:18752142;PMID:19057127;PMID:19716085;PMID:19841300;PMID:19843919;PMID:10187793). 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