NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs) AND Arrhythmogenic cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2023
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:
RCV002789936.1

Allele description [Variation Report for NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)]

NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
HGVS:
  • NC_000006.12:g.7579391AG[1]
  • NG_008803.1:g.42755AG[1]
  • NM_001008844.3:c.3203_3204del
  • NM_001319034.2:c.3203_3204del
  • NM_004415.4:c.3203_3204delMANE SELECT
  • NP_001008844.1:p.Glu1068fs
  • NP_001305963.1:p.Glu1068fs
  • NP_004406.2:p.Glu1068Valfs
  • NP_004406.2:p.Glu1068fs
  • LRG_423t1:c.3201_3202AG[1]
  • LRG_423:g.42755AG[1]
  • LRG_423p1:p.Glu1068Valfs
  • NC_000006.11:g.7579624AG[1]
  • NC_000006.11:g.7579624_7579625del
  • NM_004415.2:c.3201_3202AG[1]
  • NM_004415.2:c.3203_3204del
Protein change:
E1068fs
Molecular consequence:
  • NM_001008844.3:c.3203_3204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319034.2:c.3203_3204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004415.4:c.3203_3204del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Arrhythmogenic cardiomyopathy
Identifiers:
MedGen: CN280864

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003760915Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University
no assertion criteria provided
Pathogenic
(Jan 10, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University, SCV003760915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024