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NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) AND Wolff-Parkinson-White pattern

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 14, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000656205.9

Allele description [Variation Report for NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly)]

NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly)

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.1705C>G (p.Arg569Gly)
Other names:
p.R569G:CGG>GGG
HGVS:
  • NC_000003.12:g.38603897G>C
  • NG_008934.1:g.50776C>G
  • NM_000335.5:c.1705C>GMANE SELECT
  • NM_001099404.2:c.1705C>G
  • NM_001099405.2:c.1705C>G
  • NM_001160160.2:c.1705C>G
  • NM_001160161.2:c.1705C>G
  • NM_001354701.2:c.1705C>G
  • NM_198056.3:c.1705C>G
  • NP_000326.2:p.Arg569Gly
  • NP_001092874.1:p.Arg569Gly
  • NP_001092875.1:p.Arg569Gly
  • NP_001092875.1:p.Arg569Gly
  • NP_001153632.1:p.Arg569Gly
  • NP_001153633.1:p.Arg569Gly
  • NP_001341630.1:p.Arg569Gly
  • NP_932173.1:p.Arg569Gly
  • NP_932173.1:p.Arg569Gly
  • LRG_289t1:c.1705C>G
  • LRG_289:g.50776C>G
  • LRG_289p1:p.Arg569Gly
  • NC_000003.11:g.38645388G>C
  • NM_001099405.1:c.1705C>G
  • NM_198056.2:c.1705C>G
Protein change:
R569G
Links:
dbSNP: rs199473576
NCBI 1000 Genomes Browser:
rs199473576
Molecular consequence:
  • NM_000335.5:c.1705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1705C>G - 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; Human Phenotype Ontology: HP:0001716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678399Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
no assertion criteria provided
Likely pathogenic
(Jul 14, 2017) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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, SCV000678399.1

#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
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024