NM_001943.5(DSG2):c.882dup (p.Val295fs) AND Arrhythmogenic right ventricular cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Feb 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000852472.1

Allele description [Variation Report for NM_001943.5(DSG2):c.882dup (p.Val295fs)]

NM_001943.5(DSG2):c.882dup (p.Val295fs)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.882dup (p.Val295fs)
HGVS:
  • NC_000018.10:g.31524756dup
  • NG_007072.3:g.31515dup
  • NM_001943.5:c.882dupMANE SELECT
  • NP_001934.2:p.Val295fs
  • LRG_397:g.31515dup
  • NC_000018.9:g.29104719dup
Protein change:
V295fs
Links:
dbSNP: rs1187924885
NCBI 1000 Genomes Browser:
rs1187924885
Molecular consequence:
  • NM_001943.5:c.882dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MedGen: C0349788; OMIM: PS107970

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000995166Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diegocriteria provided, single submitter
Likely pathogenic
(Feb 2, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego, SCV000995166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

Support Center