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NM_024422.6(DSC2):c.1053_1059del (p.His351fs) AND Arrhythmogenic right ventricular dysplasia 11

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 19, 2022
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:
RCV001903737.3

Allele description

NM_024422.6(DSC2):c.1053_1059del (p.His351fs)

Gene:
DSC2:desmocollin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_024422.6(DSC2):c.1053_1059del (p.His351fs)
HGVS:
  • NC_000018.10:g.31082947_31082953del
  • NG_008208.2:g.24476_24482del
  • NM_004949.5:c.1053_1059del
  • NM_024422.6:c.1053_1059delMANE SELECT
  • NP_004940.1:p.His351fs
  • NP_077740.1:p.His351fs
  • LRG_400:g.24476_24482del
  • NC_000018.9:g.28662910_28662916del
  • NC_000018.9:g.28662913_28662919del
Protein change:
H351fs
Links:
dbSNP: rs1373100329
NCBI 1000 Genomes Browser:
rs1373100329
Molecular consequence:
  • NM_004949.5:c.1053_1059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024422.6:c.1053_1059del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 11
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; Arrhythmogenic right ventricular cardiomyopathy, type 11; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11
Identifiers:
MONDO: MONDO:0012506; MedGen: C1864850; OMIM: 610476

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002173598Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Apr 19, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C, Bikker H, Overduin M, Chidgey M.

J Mol Biol. 2013 Nov 1;425(21):4006-22. doi: 10.1016/j.jmb.2013.07.035. Epub 2013 Aug 2. Review.

PubMed [citation]
PMID:
23911551
PMCID:
PMC3807649

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002173598.3

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

Description

This sequence change creates a premature translational stop signal (p.His351Glnfs*9) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 28, 2024