NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) AND Brugada 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:
RCV000058661.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)]

NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)

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.4318G>C (p.Glu1440Gln)
HGVS:
  • NC_000003.12:g.38556557C>G
  • NG_008934.1:g.98116G>C
  • NM_000335.5:c.4318G>CMANE SELECT
  • NM_001099404.2:c.4321G>C
  • NM_001099405.2:c.4267G>C
  • NM_001160160.2:c.4318G>C
  • NM_001160161.2:c.4159G>C
  • NM_001354701.2:c.4264G>C
  • NM_198056.3:c.4321G>C
  • NP_000326.2:p.Glu1440Gln
  • NP_001092874.1:p.Glu1441Gln
  • NP_001092875.1:p.Glu1423Gln
  • NP_001153632.1:p.Glu1440Gln
  • NP_001153633.1:p.Glu1387Gln
  • NP_001341630.1:p.Glu1422Gln
  • NP_932173.1:p.Glu1441Gln
  • NP_932173.1:p.Glu1441Gln
  • LRG_289t1:c.4321G>C
  • LRG_289:g.98116G>C
  • LRG_289p1:p.Glu1441Gln
  • NC_000003.11:g.38598048C>G
  • NM_198056.2:c.4321G>C
  • Q14524:p.Glu1441Gln
Protein change:
E1387Q
Links:
UniProtKB: Q14524#VAR_074443; dbSNP: rs199473249
NCBI 1000 Genomes Browser:
rs199473249
Molecular consequence:
  • NM_000335.5:c.4318G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4321G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.4318G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.4159G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.4264G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4321G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090181Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (2)
[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

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, et al.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

PubMed [citation]
PMID:
20129283
PMCID:
PMC2822446

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]
PMID:
22581653
PMCID:
PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000090181.3

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

Description

This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20129283). 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: Dec 4, 2021

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