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NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) AND Wolff-Parkinson-White pattern

Germline classification:
Uncertain significance (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:
RCV000656143.1

Allele description [Variation Report for NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)]

NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)
HGVS:
  • NC_000017.11:g.39665456C>T
  • NG_008892.1:g.5111C>T
  • NG_042278.1:g.2476C>T
  • NM_003673.4:c.97C>TMANE SELECT
  • NP_003664.1:p.Arg33Trp
  • NP_003664.1:p.Arg33Trp
  • LRG_210t1:c.97C>T
  • LRG_210:g.5111C>T
  • LRG_210p1:p.Arg33Trp
  • NC_000017.10:g.37821709C>T
  • NM_003673.3:c.97C>T
Protein change:
R33W
Links:
dbSNP: rs145524909
NCBI 1000 Genomes Browser:
rs145524909
Molecular consequence:
  • NM_003673.4:c.97C>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; Human Phenotype Ontology: HP:0001716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678337Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
no assertion criteria provided
Uncertain significance
(Jul 14, 2017) 		inheritedresearch

Help

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, SCV000678337.1

#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 26, 2024