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NM_004415.4(DSP):c.793_794del (p.Arg265fs) AND Arrhythmogenic right ventricular cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002260474.1

Allele description [Variation Report for NM_004415.4(DSP):c.793_794del (p.Arg265fs)]

NM_004415.4(DSP):c.793_794del (p.Arg265fs)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.793_794del (p.Arg265fs)
HGVS:
  • NC_000006.12:g.7565372AG[1]
  • NG_008803.1:g.28736AG[1]
  • NM_001008844.3:c.793_794del
  • NM_001319034.2:c.793_794del
  • NM_004415.4:c.793_794delMANE SELECT
  • NP_001008844.1:p.Arg265fs
  • NP_001305963.1:p.Arg265fs
  • NP_004406.2:p.Arg265fs
  • LRG_423:g.28736AG[1]
  • NC_000006.11:g.7565605AG[1]
  • NM_004415.3:c.793_794del
Protein change:
R265fs
Links:
dbSNP: rs2113669181
NCBI 1000 Genomes Browser:
rs2113669181
Molecular consequence:
  • NM_001008844.3:c.793_794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319034.2:c.793_794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004415.4:c.793_794del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002540096Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 1, 2022) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes, SCV002540096.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024