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NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter) AND Arrhythmogenic right ventricular dysplasia 8

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 6, 2020
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:
RCV001260987.1

Allele description [Variation Report for NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter)]

NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter)
HGVS:
  • NC_000006.12:g.7585091C>G
  • NG_008803.1:g.48455C>G
  • NM_001008844.3:c.6032C>G
  • NM_001319034.2:c.6500C>G
  • NM_004415.4:c.7829C>GMANE SELECT
  • NP_001008844.1:p.Ser2011Ter
  • NP_001305963.1:p.Ser2167Ter
  • NP_004406.2:p.Ser2610Ter
  • LRG_423:g.48455C>G
  • NC_000006.11:g.7585324C>G
Protein change:
S2011*
Links:
dbSNP: rs1163244913
NCBI 1000 Genomes Browser:
rs1163244913
Molecular consequence:
  • NM_001008844.3:c.6032C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319034.2:c.6500C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004415.4:c.7829C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
Identifiers:
MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001438361Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 6, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA.

Am J Hum Genet. 2002 Nov;71(5):1200-6. Epub 2002 Oct 8.

PubMed [citation]
PMID:
12373648
PMCID:
PMC385098

Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.

Favre B, Begré N, Bouameur JE, Lingasamy P, Conover GM, Fontao L, Borradori L.

PLoS One. 2018;13(10):e0205038. doi: 10.1371/journal.pone.0205038.

PubMed [citation]
PMID:
30286183
PMCID:
PMC6171917
See all PubMed Citations (3)

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001438361.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022