U.S. flag

An official website of the United States government

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) AND Arrhythmogenic right ventricular dysplasia 8

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 6, 2018
Review status:
criteria provided, conflicting classifications
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:
RCV000490472.7

Allele description [Variation Report for NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)]

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
Other names:
p.R2639Q:CGG>CAG
HGVS:
  • NC_000006.12:g.7585178G>A
  • NG_008803.1:g.48542G>A
  • NM_001008844.3:c.6119G>A
  • NM_001319034.2:c.6587G>A
  • NM_004415.4:c.7916G>AMANE SELECT
  • NP_001008844.1:p.Arg2040Gln
  • NP_001305963.1:p.Arg2196Gln
  • NP_004406.2:p.Arg2639Gln
  • LRG_423t1:c.7916G>A
  • LRG_423:g.48542G>A
  • NC_000006.11:g.7585411G>A
  • NM_004415.2:c.7916G>A
  • NM_004415.3:c.7916G>A
Protein change:
R2040Q
Links:
dbSNP: rs116888866
NCBI 1000 Genomes Browser:
rs116888866
Molecular consequence:
  • NM_001008844.3:c.6119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.6587G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.7916G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267294Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 18, 2016) 		germlinereference population

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

SCV000465224Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Mar 6, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
East Asiangermlineunknown2not providednot providednot providednot providedreference population

Citations

PubMed

Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations.

Yu CC, Yu CH, Hsueh CH, Yang CT, Juang JM, Hwang JJ, Lin JL, Lai LP.

J Formos Med Assoc. 2008 Jul;107(7):548-58. doi: 10.1016/S0929-6646(08)60168-0. Erratum in: J Formos Med Assoc. 2009 Mar;108(3):265.

PubMed [citation]
PMID:
18632414

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian2not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV000465224.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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

Last Updated: Oct 13, 2024