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NM_024422.6(DSC2):c.882dup (p.Phe295fs) AND Arrhythmogenic right ventricular dysplasia 11

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 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:
RCV000462858.6

Allele description [Variation Report for NM_024422.6(DSC2):c.882dup (p.Phe295fs)]

NM_024422.6(DSC2):c.882dup (p.Phe295fs)

Gene:
DSC2:desmocollin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_024422.6(DSC2):c.882dup (p.Phe295fs)
HGVS:
  • NC_000018.10:g.31086636dup
  • NG_008208.2:g.20790dup
  • NM_004949.5:c.882dup
  • NM_024422.6:c.882dupMANE SELECT
  • NP_004940.1:p.Phe295fs
  • NP_077740.1:p.Phe295fs
  • LRG_400:g.20790dup
  • NC_000018.9:g.28666598_28666599insT
  • NC_000018.9:g.28666599dup
  • NM_024422.4:c.882dupA
Protein change:
F295fs
Links:
dbSNP: rs1060502989
NCBI 1000 Genomes Browser:
rs1060502989
Molecular consequence:
  • NM_004949.5:c.882dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024422.6:c.882dup - 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
SCV000551486Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Apr 26, 2017)
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, SCV000551486.6

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

Description

For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). This sequence change inserts 1 nucleotide in exon 7 of the DSC2 mRNA (c.882dupA), causing a frameshift at codon 295. This creates a premature translational stop signal (p.Phe295Ilefs*23) and is expected to result in an absent or disrupted protein product.

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

Last Updated: Feb 20, 2024