NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND Wolff-Parkinson-White pattern

Clinical significance:Likely pathogenic (Last evaluated: Jul 14, 2017)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656174.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys)]

NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys)

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.1567C>T (p.Arg523Cys)
HGVS:
  • NC_000003.12:g.38604035G>A
  • NG_008934.1:g.50638C>T
  • NM_000335.5:c.1567C>TMANE SELECT
  • NM_001099404.2:c.1567C>T
  • NM_001099405.1:c.1567C>T
  • NM_001099405.2:c.1567C>T
  • NM_001160160.2:c.1567C>T
  • NM_001160161.2:c.1567C>T
  • NM_001354701.2:c.1567C>T
  • NM_198056.2:c.1567C>T
  • NM_198056.3:c.1567C>T
  • NP_000326.2:p.Arg523Cys
  • NP_001092874.1:p.Arg523Cys
  • NP_001092875.1:p.Arg523Cys
  • NP_001092875.1:p.Arg523Cys
  • NP_001153632.1:p.Arg523Cys
  • NP_001153633.1:p.Arg523Cys
  • NP_001341630.1:p.Arg523Cys
  • NP_932173.1:p.Arg523Cys
  • NP_932173.1:p.Arg523Cys
  • LRG_289t1:c.1567C>T
  • LRG_289:g.50638C>T
  • LRG_289p1:p.Arg523Cys
  • NC_000003.11:g.38645526G>A
Protein change:
R523C
Links:
dbSNP: rs199473119
NCBI 1000 Genomes Browser:
rs199473119
Molecular consequence:
  • NM_000335.5:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.1:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Wolff-Parkinson-White pattern
Synonyms:
WPW syndrome; Auriculoventricular accessory pathway syndrome; False bundle branch block syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008685; MedGen: C0043202; OMIM: 194200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000678368Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndromeno assertion criteria providedLikely pathogenic
(Jul 14, 2017)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome, SCV000678368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

This variant was identified in an individual with Wolff-Parkinson-White syndrome

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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