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NM_014000.3(VCL):c.550C>T (p.His184Tyr) 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:
RCV000656210.9

Allele description [Variation Report for NM_014000.3(VCL):c.550C>T (p.His184Tyr)]

NM_014000.3(VCL):c.550C>T (p.His184Tyr)

Gene:
VCL:vinculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_014000.3(VCL):c.550C>T (p.His184Tyr)
HGVS:
  • NC_000010.11:g.74072780C>T
  • NG_008868.1:g.79667C>T
  • NM_003373.4:c.550C>T
  • NM_014000.3:c.550C>TMANE SELECT
  • NP_003364.1:p.His184Tyr
  • NP_054706.1:p.His184Tyr
  • NP_054706.1:p.His184Tyr
  • LRG_383t1:c.550C>T
  • LRG_383:g.79667C>T
  • LRG_383p1:p.His184Tyr
  • NC_000010.10:g.75832538C>T
  • NM_014000.2:c.550C>T
Protein change:
H184Y
Links:
dbSNP: rs1321660809
NCBI 1000 Genomes Browser:
rs1321660809
Molecular consequence:
  • NM_003373.4:c.550C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014000.3:c.550C>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
SCV000678404Lupski 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) 		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, SCV000678404.1

#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