NM_001943.5(DSG2):c.216+3A>C AND Cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Aug 21, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001189658.1

Allele description [Variation Report for NM_001943.5(DSG2):c.216+3A>C]

NM_001943.5(DSG2):c.216+3A>C

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.216+3A>C
HGVS:
  • NC_000018.10:g.31519940A>C
  • NG_007072.3:g.26699A>C
  • NM_001943.5:c.216+3A>CMANE SELECT
  • LRG_397t1:c.216+3A>C
  • LRG_397:g.26699A>C
  • NC_000018.9:g.29099903A>C
  • NM_001943.3:c.216+3A>C
  • NM_001943.4:c.216+3A>C
Links:
dbSNP: rs774208829
NCBI 1000 Genomes Browser:
rs774208829
Molecular consequence:
  • NM_001943.5:c.216+3A>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001356989Color Health, Inccriteria provided, single submitter
Uncertain significance
(Aug 21, 2019)
germlineclinical testing

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

Description

This variant causes an A>C nucleotide substitution at the +3 position of intron 3 of the DSG2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/31396 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.

SCV001356989

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, SCV001356989.1

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

Last Updated: Oct 7, 2021

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