NM_004415.4(DSP):c.465del (p.Ile156fs) AND Arrhythmogenic right ventricular dysplasia 8

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 21, 2017
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:: RCV000541378.1

Allele description [Variation Report for NM_004415.4(DSP):c.465del (p.Ile156fs)]

NM_004415.4(DSP):c.465del (p.Ile156fs)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.465del (p.Ile156fs)

HGVS:

NC_000006.11:g.7559500del
NC_000006.12:g.7559268del
NG_008803.1:g.22632del
NM_001008844.3:c.465del
NM_001319034.2:c.465del
NM_004415.4:c.465delMANE SELECT
NP_001008844.1:p.Ile156fs
NP_001305963.1:p.Ile156fs
NP_004406.2:p.Ile156fs
LRG_423t1:c.465del
LRG_423:g.22632del
NC_000006.11:g.7559500del
NC_000006.11:g.7559500delC
NC_000006.11:g.7559501del
NM_004415.2:c.465del
NM_004415.2:c.465delC

Protein change:

I156fs

Links:

dbSNP: rs1554105911

NCBI 1000 Genomes Browser:

rs1554105911

Molecular consequence:

NM_001008844.3:c.465del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319034.2:c.465del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004415.4:c.465del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000639741	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 21, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000639741

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 21, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000639741.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change deletes 1 nucleotide from exon 4 of the DSP mRNA (c.465delC), causing a frameshift at codon 156. This creates a premature translational stop signal (p.Ile156Serfs*40) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DSP are known to be pathogenic (PMID: 24503780, 20716751). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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