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NM_004415.4(DSP):c.2130+1G>A AND DSP-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 9, 2023
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:
RCV003390851.4

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]

Condition(s)

Name:
DSP-related disorder
Synonyms:
DSP-related condition; DSP-Related Disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004112035PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 9, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 PreventionGenetics, part of Exact Sciences, SCV004112035.1

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

Description

The DSP c.2130+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported in an individual with arrhythmogenic right ventricular cardiomyopathy (supplementary file 2 - van Lint et al. 2019. PubMed ID: 30847666). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in DSP are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024