NM_004415.2(DSP):c.897C>G (p.Ser299Arg) AND Arrhythmogenic right ventricular cardiomyopathy, type 8

Clinical significance:Pathogenic (Last evaluated: Aug 9, 2013)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018332.26

Allele description [Variation Report for NM_004415.2(DSP):c.897C>G (p.Ser299Arg)]

Gene:
DSP:desmoplakin [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.2(DSP):c.897C>G (p.Ser299Arg)
HGVS:
  • NC_000006.12:g.7565478C>G
  • NG_008803.1:g.28842C>G
  • NM_004415.2:c.897C>G
  • NP_004406.2:p.Ser299Arg
  • NC_000006.11:g.7565711C>G
Protein change:
S299R; SER299ARG
Links:
OMIM: 125647.0003; dbSNP: 121912992
GMAF:
0.0005(T), 121912992
NCBI 1000 Genomes Browser:
rs121912992
Molecular consequence:
  • NM_004415.2:c.897C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy, type 8 (ARVD8)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8; Arrhythmogenic right ventricular dysplasia 8; See all synonyms [MedGen]
Identifiers:
MedGen: C1843896; OMIM: 607450

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000038611OMIMPathogenic
(Aug 9, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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

Details of each submission

From OMIM, SCV000038611.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of an Italian family with arrhythmogenic right ventricular dysplasia mapping to 6p24 (607450), Rampazzo et al. (2002) identified a ser299-to-arg (S299R) missense mutation in exon 7 of the DSP gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2014

Write to the Help Desk