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NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu) 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:
RCV000058055.5

Allele description [Variation Report for NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)]

NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)

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.1920C>A (p.Phe640Leu)
HGVS:
  • NC_000007.14:g.150951473G>T
  • NG_008916.1:g.31454C>A
  • NM_000238.4:c.1920C>AMANE SELECT
  • NM_001204798.2:c.900C>A
  • NM_001406753.1:c.1632C>A
  • NM_001406755.1:c.1743C>A
  • NM_001406756.1:c.1632C>A
  • NM_001406757.1:c.1620C>A
  • NM_172056.3:c.1920C>A
  • NM_172057.3:c.900C>A
  • NP_000229.1:p.Phe640Leu
  • NP_000229.1:p.Phe640Leu
  • NP_001191727.1:p.Phe300Leu
  • NP_001393682.1:p.Phe544Leu
  • NP_001393684.1:p.Phe581Leu
  • NP_001393685.1:p.Phe544Leu
  • NP_001393686.1:p.Phe540Leu
  • NP_742053.1:p.Phe640Leu
  • NP_742053.1:p.Phe640Leu
  • NP_742054.1:p.Phe300Leu
  • NP_742054.1:p.Phe300Leu
  • LRG_288t1:c.1920C>A
  • LRG_288t2:c.1920C>A
  • LRG_288t3:c.900C>A
  • LRG_288:g.31454C>A
  • LRG_288p1:p.Phe640Leu
  • LRG_288p2:p.Phe640Leu
  • LRG_288p3:p.Phe300Leu
  • NC_000007.13:g.150648561G>T
  • NM_000238.3:c.1920C>A
  • NM_172056.2:c.1920C>A
  • NM_172057.2:c.900C>A
  • NR_176254.1:n.2328C>A
  • NR_176255.1:n.1201C>A
  • Q12809:p.Phe640Leu
  • p.F640L
Protein change:
F300L
Links:
UniProtKB: Q12809#VAR_008937; dbSNP: rs199472970
NCBI 1000 Genomes Browser:
rs199472970
Molecular consequence:
  • NM_000238.4:c.1920C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.900C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1632C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1743C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1632C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1620C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1920C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.900C>A - 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
SCV000089575Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (4)
[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

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ.

Hum Mutat. 1999;13(4):301-10.

PubMed [citation]
PMID:
10220144

The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AA.

J Med Genet. 2003 Feb;40(2):141-5. No abstract available.

PubMed [citation]
PMID:
12566525
PMCID:
PMC1735373
See all PubMed Citations (4)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089575.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:10220144;PMID:12566525;PMID:19841300). 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: Jun 9, 2024