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NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 2014
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:
RCV000157195.1

Allele description [Variation Report for NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)]

NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
HGVS:
  • NC_000006.12:g.7579989C>T
  • NG_008803.1:g.43353C>T
  • NM_001008844.3:c.3582+217C>T
  • NM_001319034.2:c.3799C>T
  • NM_004415.4:c.3799C>TMANE SELECT
  • NP_001305963.1:p.Arg1267Ter
  • NP_004406.2:p.Arg1267Ter
  • LRG_423t1:c.3799C>T
  • LRG_423:g.43353C>T
  • LRG_423p1:p.Arg1267Ter
  • NC_000006.11:g.7580222C>T
  • NM_004415.2:c.3799C>T
Protein change:
R1267*; ARG1267TER
Links:
OMIM: 125647.0010; dbSNP: rs121912997
NCBI 1000 Genomes Browser:
rs121912997
Molecular consequence:
  • NM_001008844.3:c.3582+217C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004415.4:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206919Blueprint Genetics
no assertion criteria provided
Likely pathogenic
(Jul 10, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.

Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B.

J Med Genet. 2006 Feb;43(2):e5.

PubMed [citation]
PMID:
16467215
PMCID:
PMC2564645

Details of each submission

From Blueprint Genetics, SCV000206919.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024