NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) AND Congenital long QT syndrome

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000058726.3

Allele description [Variation Report for NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)]

NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
Other names:
p.R1644H:CGC>CAC
HGVS:
  • NC_000003.12:g.38551441C>T
  • NG_008934.1:g.103232G>A
  • NM_000335.5:c.4928G>AMANE SELECT
  • NM_001099404.2:c.4931G>A
  • NM_001099405.2:c.4877G>A
  • NM_001160160.2:c.4832G>A
  • NM_001160161.2:c.4769G>A
  • NM_001354701.2:c.4874G>A
  • NM_198056.2:c.4931G>A
  • NM_198056.3:c.4931G>A
  • NP_000326.2:p.Arg1643His
  • NP_001092874.1:p.Arg1644His
  • NP_001092875.1:p.Arg1626His
  • NP_001153632.1:p.Arg1611His
  • NP_001153633.1:p.Arg1590His
  • NP_001341630.1:p.Arg1625His
  • NP_932173.1:p.Arg1644His
  • NP_932173.1:p.Arg1644His
  • LRG_289t1:c.4931G>A
  • LRG_289:g.103232G>A
  • LRG_289p1:p.Arg1644His
  • NC_000003.11:g.38592932C>T
  • Q14524:p.Arg1644His
Protein change:
R1590H; ARG1644HIS
Links:
UniProtKB: Q14524#VAR_001579; OMIM: 600163.0002; dbSNP: rs28937316
NCBI 1000 Genomes Browser:
rs28937316
Molecular consequence:
  • NM_000335.5:c.4928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4877G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.4832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.4769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.4874G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.4931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4931G>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090246Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (8)
[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

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT.

Hum Mol Genet. 1995 Sep;4(9):1603-7.

PubMed [citation]
PMID:
8541846

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
See all PubMed Citations (8)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000090246.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (8)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:8541846;PMID:10973849;PMID:15051636;PMID:15840476;PMID:19841300;PMID:8620612;PMID:8917568). 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: Oct 30, 2021

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