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NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) 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:
RCV000058106.5

Allele description [Variation Report for NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)]

NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)

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.2320G>T (p.Asp774Tyr)
Other names:
p.D774Y:GAC>TAC
HGVS:
  • NC_000007.14:g.150950246C>A
  • NG_008916.1:g.32681G>T
  • NM_000238.4:c.2320G>TMANE SELECT
  • NM_001204798.2:c.1300G>T
  • NM_001406753.1:c.2032G>T
  • NM_001406755.1:c.2143G>T
  • NM_001406756.1:c.2032G>T
  • NM_001406757.1:c.2020G>T
  • NM_172056.3:c.2320G>T
  • NM_172057.3:c.1300G>T
  • NP_000229.1:p.Asp774Tyr
  • NP_000229.1:p.Asp774Tyr
  • NP_001191727.1:p.Asp434Tyr
  • NP_001393682.1:p.Asp678Tyr
  • NP_001393684.1:p.Asp715Tyr
  • NP_001393685.1:p.Asp678Tyr
  • NP_001393686.1:p.Asp674Tyr
  • NP_742053.1:p.Asp774Tyr
  • NP_742053.1:p.Asp774Tyr
  • NP_742054.1:p.Asp434Tyr
  • NP_742054.1:p.Asp434Tyr
  • LRG_288t1:c.2320G>T
  • LRG_288t2:c.2320G>T
  • LRG_288t3:c.1300G>T
  • LRG_288:g.32681G>T
  • LRG_288p1:p.Asp774Tyr
  • LRG_288p2:p.Asp774Tyr
  • LRG_288p3:p.Asp434Tyr
  • NC_000007.13:g.150647334C>A
  • NM_000238.2:c.2320G>T
  • NM_000238.3:c.2320G>T
  • NM_172056.2:c.2320G>T
  • NM_172057.2:c.1300G>T
  • NR_176254.1:n.2728G>T
  • NR_176255.1:n.1601G>T
  • Q12809:p.Asp774Tyr
Protein change:
D434Y
Links:
UniProtKB: Q12809#VAR_068277; dbSNP: rs199472995
NCBI 1000 Genomes Browser:
rs199472995
Molecular consequence:
  • NM_000238.4:c.2320G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.1300G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.2032G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.2143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.2032G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.2320G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1300G>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
SCV000089626Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (5)
[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

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.

PubMed [citation]
PMID:
15840476

Long QT and Brugada syndrome gene mutations in New Zealand.

Chung SK, MacCormick JM, McCulley CH, Crawford J, Eddy CA, Mitchell EA, Shelling AN, French JK, Skinner JR, Rees MI.

Heart Rhythm. 2007 Oct;4(10):1306-14. Epub 2007 Jul 14.

PubMed [citation]
PMID:
17905336
See all PubMed Citations (5)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089626.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:15840476;PMID:17905336;PMID:19716085;PMID:22429796). 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