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NM_002230.4(JUP):c.578T>C (p.Met193Thr) 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:
RCV000656166.1

Allele description [Variation Report for NM_002230.4(JUP):c.578T>C (p.Met193Thr)]

NM_002230.4(JUP):c.578T>C (p.Met193Thr)

Gene:
JUP:junction plakoglobin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
HGVS:
  • NC_000017.11:g.41769098A>G
  • NG_009090.2:g.22615T>C
  • NM_001352773.2:c.578T>C
  • NM_001352774.2:c.578T>C
  • NM_001352775.2:c.578T>C
  • NM_001352776.2:c.578T>C
  • NM_001352777.2:c.578T>C
  • NM_002230.4:c.578T>CMANE SELECT
  • NM_021991.4:c.578T>C
  • NP_001339702.1:p.Met193Thr
  • NP_001339703.1:p.Met193Thr
  • NP_001339704.1:p.Met193Thr
  • NP_001339705.1:p.Met193Thr
  • NP_001339706.1:p.Met193Thr
  • NP_002221.1:p.Met193Thr
  • NP_068831.1:p.Met193Thr
  • NP_068831.1:p.Met193Thr
  • LRG_401t2:c.578T>C
  • LRG_401:g.22615T>C
  • NC_000017.10:g.39925350A>G
  • NM_002230.2:c.578T>C
  • NM_021991.3:c.578T>C
  • NM_021991.4:c.578T>C
Protein change:
M193T
Links:
dbSNP: rs139496777
NCBI 1000 Genomes Browser:
rs139496777
Molecular consequence:
  • NM_001352773.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.578T>C - 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
SCV000678360Lupski 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, SCV000678360.1

#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: May 16, 2025