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NM_004415.4(DSP):c.2130+1G>A AND Primary dilated cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 8, 2014
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:
RCV000156570.4

Allele description [Variation Report for NM_004415.4(DSP):c.2130+1G>A]

NM_004415.4(DSP):c.2130+1G>A

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.2130+1G>A
HGVS:
  • NC_000006.12:g.7572069G>A
  • NG_008803.1:g.35433G>A
  • NM_001008844.3:c.2130+1G>A
  • NM_001319034.2:c.2130+1G>A
  • NM_004415.3:c.2130+1G>A
  • NM_004415.4:c.2130+1G>AMANE SELECT
  • LRG_423t1:c.2130+1G>A
  • LRG_423:g.35433G>A
  • NC_000006.11:g.7572302G>A
  • NM_004415.2:c.2130+1G>A
  • NM_004415.4:c.2130+1G>A
Links:
dbSNP: rs727505115
NCBI 1000 Genomes Browser:
rs727505115
Molecular consequence:
  • NM_001008844.3:c.2130+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001319034.2:c.2130+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004415.4:c.2130+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206289Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(May 8, 2014) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

Elliott P, O'Mahony C, Syrris P, Evans A, Rivera Sorensen C, Sheppard MN, Carr-White G, Pantazis A, McKenna WJ.

Circ Cardiovasc Genet. 2010 Aug;3(4):314-22. doi: 10.1161/CIRCGENETICS.110.937805.

PubMed [citation]
PMID:
20716751

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206289.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The 2130+1G>A variant in DSP has not been previously reported in individuals wit h cardiomyopathy or in large population studies. This variant occurs in the inv ariant region (+/- 1,2) of the splice consensus sequence and is predicted to cau se altered splicing leading to an abnormal or absent protein. A similar variant (2130+1G>C) has been reported in 1 adult with biventricular dilation and PVCs an d segregated with disease in 3 affected relatives (Elliott 2010). In summary, al though additional studies are required to fully establish its clinical significa nce, the 2130+1G>A variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 20, 2024