NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) 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:
RCV000656159.1

Allele description [Variation Report for NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn)]

NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn)
Other names:
p.D242N:GAC>AAC
HGVS:
  • NC_000011.10:g.2572053G>A
  • NG_008935.1:g.132063G>A
  • NM_000218.2:c.724G>A
  • NM_181798.1:c.343G>A
  • NP_000209.2:p.Asp242Asn
  • NP_861463.1:p.Asp115Asn
  • LRG_287t1:c.724G>A
  • LRG_287t2:c.343G>A
  • LRG_287:g.132063G>A
  • LRG_287p1:p.Asp242Asn
  • LRG_287p2:p.Asp115Asn
  • NC_000011.9:g.2593283G>A
  • P51787:p.Asp242Asn
Protein change:
D115N
Links:
UniProtKB: P51787#VAR_008940; dbSNP: rs199472712
NCBI 1000 Genomes Browser:
rs199472712
Molecular consequence:
  • NM_000218.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.343G>A - 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
SCV000678353Lupski 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, SCV000678353.1

#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: Oct 8, 2021

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