NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) 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:
RCV000656220.1

Allele description [Variation Report for NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)]

NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
HGVS:
  • NC_000002.12:g.178548943G>A
  • NG_011618.3:g.286860C>T
  • NG_051363.1:g.31117G>A
  • NM_001256850.1:c.87760C>T
  • NM_001267550.2:c.92683C>TMANE SELECT
  • NM_003319.4:c.65488C>T
  • NM_133378.4:c.84979C>T
  • NM_133432.3:c.65863C>T
  • NM_133437.4:c.66064C>T
  • NP_001243779.1:p.Arg29254Ter
  • NP_001254479.2:p.Arg30895Ter
  • NP_003310.4:p.Arg21830Ter
  • NP_596869.4:p.Arg28327Ter
  • NP_597676.3:p.Arg21955Ter
  • NP_597681.4:p.Arg22022Ter
  • LRG_391t1:c.92683C>T
  • LRG_391:g.286860C>T
  • NC_000002.11:g.179413670G>A
Protein change:
R21830*
Links:
dbSNP: rs869312065
NCBI 1000 Genomes Browser:
rs869312065
Molecular consequence:
  • NM_001256850.1:c.87760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001267550.2:c.92683C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003319.4:c.65488C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133378.4:c.84979C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133432.3:c.65863C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133437.4:c.66064C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000678414Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndromeno assertion criteria providedLikely pathogenic
(Jul 14, 2017)
unknownresearch

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, SCV000678414.1

#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: Sep 29, 2021

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