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NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys) 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:
RCV000656187.1

Allele description [Variation Report for NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)]

NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)
HGVS:
  • NC_000006.12:g.7579944G>A
  • NG_008803.1:g.43308G>A
  • NM_001008844.3:c.3582+172G>A
  • NM_001319034.2:c.3754G>A
  • NM_004415.4:c.3754G>AMANE SELECT
  • NP_001305963.1:p.Glu1252Lys
  • NP_004406.2:p.Glu1252Lys
  • LRG_423t1:c.3754G>A
  • LRG_423:g.43308G>A
  • NC_000006.11:g.7580177G>A
  • NM_004415.2:c.3754G>A
  • NM_004415.3:c.3754G>A
Protein change:
E1252K
Links:
dbSNP: rs1262533485
NCBI 1000 Genomes Browser:
rs1262533485
Molecular consequence:
  • NM_001008844.3:c.3582+172G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3754G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3754G>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; Human Phenotype Ontology: HP:0001716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678381Lupski 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, SCV000678381.1

#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: Jun 2, 2024