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NM_000335.5(SCN5A):c.4137C>G (p.Asn1379Lys) AND Brugada 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:
RCV000058642.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.4137C>G (p.Asn1379Lys)]

NM_000335.5(SCN5A):c.4137C>G (p.Asn1379Lys)

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.4137C>G (p.Asn1379Lys)
HGVS:
  • NC_000003.12:g.38560252G>C
  • NG_008934.1:g.94421C>G
  • NM_000335.5:c.4137C>GMANE SELECT
  • NM_001099404.2:c.4140C>G
  • NM_001099405.2:c.4140C>G
  • NM_001160160.2:c.4137C>G
  • NM_001160161.2:c.3978C>G
  • NM_001354701.2:c.4137C>G
  • NM_198056.3:c.4140C>G
  • NP_000326.2:p.Asn1379Lys
  • NP_001092874.1:p.Asn1380Lys
  • NP_001092875.1:p.Asn1380Lys
  • NP_001153632.1:p.Asn1379Lys
  • NP_001153633.1:p.Asn1326Lys
  • NP_001341630.1:p.Asn1379Lys
  • NP_932173.1:p.Asn1380Lys
  • NP_932173.1:p.Asn1380Lys
  • LRG_289t1:c.4140C>G
  • LRG_289:g.94421C>G
  • LRG_289p1:p.Asn1380Lys
  • NC_000003.11:g.38601743G>C
  • NM_198056.2:c.4140C>G
Protein change:
N1326K
Links:
dbSNP: rs199473238
NCBI 1000 Genomes Browser:
rs199473238
Molecular consequence:
  • NM_000335.5:c.4137C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4140C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4140C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.4137C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.3978C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.4137C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4140C>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090162Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (2)
[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

Gene symbol: SCN5A. Disease: Brugada syndrome.

Crotti L, Ferrandi C, Pedrazzini M, Insolia R, Cuoretti A, Sanzo A, Dagradi F, De Ferrari GM, Schwartz PJ.

Hum Genet. 2008 Jun;123(5):542. No abstract available.

PubMed [citation]
PMID:
20960617

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, SCV000090162.3

#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:20960617). 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: Nov 5, 2022