NM_000257.4(MYH7):c.728G>A (p.Arg243His) 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:
RCV000656213.1

Allele description [Variation Report for NM_000257.4(MYH7):c.728G>A (p.Arg243His)]

NM_000257.4(MYH7):c.728G>A (p.Arg243His)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
Other names:
p.R243H:CGC>CAC; NM_000257.4(MYH7):c.728G>A
HGVS:
  • NC_000014.9:g.23431589C>T
  • NG_007884.1:g.9073G>A
  • NM_000257.4:c.728G>AMANE SELECT
  • NP_000248.2:p.Arg243His
  • LRG_384t1:c.728G>A
  • LRG_384:g.9073G>A
  • LRG_384p1:p.Arg243His
  • NC_000014.8:g.23900798C>T
  • NM_000257.2:c.728G>A
  • NM_000257.3:c.728G>A
  • P12883:p.Arg243His
Protein change:
R243H; ARG243HIS
Links:
UniProtKB: P12883#VAR_073876; OMIM: 160760.0040; dbSNP: rs267606910
NCBI 1000 Genomes Browser:
rs267606910
Molecular consequence:
  • NM_000257.4:c.728G>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
SCV000678407Lupski 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, SCV000678407.1

#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: Sep 29, 2021

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