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NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 2023
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:
RCV001183804.4

Allele description [Variation Report for NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)]

NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
HGVS:
  • NC_000018.10:g.31542770C>T
  • NG_007072.3:g.49529C>T
  • NM_001943.5:c.2252C>TMANE SELECT
  • NP_001934.2:p.Thr751Ile
  • LRG_397t1:c.2252C>T
  • LRG_397:g.49529C>T
  • NC_000018.9:g.29122733C>T
  • NM_001943.3:c.2252C>T
  • NM_001943.4:c.2252C>T
Protein change:
T751I
Links:
dbSNP: rs727502989
NCBI 1000 Genomes Browser:
rs727502989
Molecular consequence:
  • NM_001943.5:c.2252C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001349631Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 23, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

High-throughput genetic characterization of a cohort of Brugada syndrome patients.

Di Resta C, Pietrelli A, Sala S, Della Bella P, De Bellis G, Ferrari M, Bordoni R, Benedetti S.

Hum Mol Genet. 2015 Oct 15;24(20):5828-35. doi: 10.1093/hmg/ddv302. Epub 2015 Jul 28.

PubMed [citation]
PMID:
26220970

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 Diagnostics, LLC DBA Color Health, SCV001349631.3

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

Description

This missense variant replaces threonine with isoleucine at codon 751 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with Brugada syndrome (PMID: 26220970). This variant has been identified in 4/279340 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: Oct 13, 2024