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NM_000335.5(SCN5A):c.3830T>A (p.Ile1277Asn) 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:
RCV000058605.3

Allele description [Variation Report for NM_000335.5(SCN5A):c.3830T>A (p.Ile1277Asn)]

NM_000335.5(SCN5A):c.3830T>A (p.Ile1277Asn)

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.3830T>A (p.Ile1277Asn)
HGVS:
  • NC_000003.12:g.38566416A>T
  • NG_008934.1:g.88257T>A
  • NM_000335.5:c.3830T>AMANE SELECT
  • NM_001099404.2:c.3833T>A
  • NM_001099405.2:c.3833T>A
  • NM_001160160.2:c.3830T>A
  • NM_001160161.2:c.3671T>A
  • NM_001354701.2:c.3830T>A
  • NM_198056.3:c.3833T>A
  • NP_000326.2:p.Ile1277Asn
  • NP_001092874.1:p.Ile1278Asn
  • NP_001092875.1:p.Ile1278Asn
  • NP_001153632.1:p.Ile1277Asn
  • NP_001153633.1:p.Ile1224Asn
  • NP_001341630.1:p.Ile1277Asn
  • NP_932173.1:p.Ile1278Asn
  • NP_932173.1:p.Ile1278Asn
  • LRG_289t1:c.3833T>A
  • LRG_289:g.88257T>A
  • LRG_289p1:p.Ile1278Asn
  • NC_000003.11:g.38607907A>T
  • NM_198056.2:c.3833T>A
Protein change:
I1224N
Links:
dbSNP: rs199473215
NCBI 1000 Genomes Browser:
rs199473215
Molecular consequence:
  • NM_000335.5:c.3830T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.3833T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.3833T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.3830T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.3671T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.3830T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.3833T>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
SCV000090125Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not 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

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ.

Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.

PubMed [citation]
PMID:
19841300
PMCID:
PMC3025752

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, SCV000090125.3

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

Description

This variant has been reported as associated with Long QT syndrome in the following publications (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: Nov 5, 2022