NM_198056.2(SCN5A):c.1604G>A (p.Arg535Gln) AND Long QT syndrome 3

Clinical significance:Pathogenic (Last evaluated: Aug 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000677695.1

Allele description [Variation Report for NM_198056.2(SCN5A):c.1604G>A (p.Arg535Gln)]

NM_198056.2(SCN5A):c.1604G>A (p.Arg535Gln)

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_198056.2(SCN5A):c.1604G>A (p.Arg535Gln)
HGVS:
  • NC_000003.12:g.38603998C>T
  • NG_008934.1:g.50675G>A
  • NM_000335.4:c.1604G>A
  • NM_001099404.1:c.1604G>A
  • NM_001099405.1:c.1604G>A
  • NM_001160160.2:c.1604G>A
  • NM_001160161.1:c.1604G>A
  • NM_001354701.2:c.1604G>A
  • NM_198056.2:c.1604G>A
  • NP_000326.2:p.Arg535Gln
  • NP_001092874.1:p.Arg535Gln
  • NP_001092875.1:p.Arg535Gln
  • NP_001153632.1:p.Arg535Gln
  • NP_001153633.1:p.Arg535Gln
  • NP_001341630.1:p.Arg535Gln
  • NP_932173.1:p.Arg535Gln
  • LRG_289t1:c.1604G>A
  • LRG_289t2:c.1604G>A
  • LRG_289t3:c.1604G>A
  • LRG_289:g.50675G>A
  • LRG_289p1:p.Arg535Gln
  • LRG_289p2:p.Arg535Gln
  • LRG_289p3:p.Arg535Gln
  • NC_000003.11:g.38645489C>T
  • Q14524:p.Arg535Gln
Protein change:
R535Q
Links:
UniProtKB: Q14524#VAR_074713; dbSNP: rs199473121
NCBI 1000 Genomes Browser:
rs199473121
Molecular consequence:
  • NM_000335.4:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.1:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.1:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.1:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 3 (LQT3)
Identifiers:
MedGen: C1859062; Orphanet: 101016; Orphanet: 768; OMIM: 603830

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000803843Equipe Genetique des Anomalies du Developpement,Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3criteria provided, single submitter
Pathogenic
(Aug 3, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement,Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3, SCV000803843.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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