NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) AND Cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Dec 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001525778.1

Allele description [Variation Report for NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)]

NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
HGVS:
  • NC_000018.10:g.31524703_31524714del
  • NG_007072.3:g.31462_31473del
  • LRG_397t1:c.829_840del
  • LRG_397:g.31462_31473del
  • NC_000018.9:g.29104666_29104677del
  • NM_001943.3:c.829_840delCTTGAAGGGATG
  • NM_001943.3:c.829_840delCTTGAAGGGATG
  • NM_001943.4:c.829_840del
  • p.L277_M280del
Links:
dbSNP: rs794728093
NCBI 1000 Genomes Browser:
rs794728093

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001735966Color Health, Inccriteria provided, single submitter
Uncertain significance
(Dec 7, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Color Health, Inc, SCV001735966.1

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

Description

This variant deletes 12 nucleotides from exon 8 of the DSG2 gene, resulting in an in-frame deletion of 4 amino acids. Splicing prediction tools suggest that this variant may not disrupt RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has been reported to segregate with arrhythmogenic right ventricular cardiomyopathy in a small family (PMID: 17105751), as well as in two unrelated individuals with this condition (PMID: 19279339, 23671136). One of these individuals also carried a pathogenic truncation variant in the PKP2 gene that could explain the observed phenotype (PMID: 23671136). This variant has been identified in 1/280596 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Jun 19, 2021

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