NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 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:: RCV001188344.4

Allele description [Variation Report for NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)]

NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)

Genes:

DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)

HGVS:

NC_000018.10:g.31546259CA[1]
NC_000018.9:g.29126222_29126223del
NG_007072.3:g.53018CA[1]
NM_001943.5:c.2875_2876delMANE SELECT
NP_001934.2:p.Gln959fs
LRG_397t1:c.2875_2876del
LRG_397:g.53018CA[1]
NC_000018.9:g.29126222CA[1]
NC_000018.9:g.29126222_29126223del
NC_000018.9:g.29126224_29126225del
NC_000018.9:g.29126224_29126225delCA
NM_001943.3:c.2875_2876delCA
NM_001943.4:c.2875_2876del
p.Gln959GlufsX22

Protein change:

Q959fs

Links:

dbSNP: rs727502990

NCBI 1000 Genomes Browser:

rs727502990

Molecular consequence:

NM_001943.5:c.2875_2876del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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Tssr62802 AND (alive[prop]) (0)
Gene
forkhead box protein K2 [Canis lupus familiaris]
forkhead box protein K2 [Canis lupus familiaris]
gi|1952783111|ref|XP_022272208.2|

Protein
Influenza A virus (A/California/VRDL207/2009(H3N2)) nucleocapsid protein (NP) ge...
Influenza A virus (A/California/VRDL207/2009(H3N2)) nucleocapsid protein (NP) gene, complete cds
gi|302371744|gnl|NIGSP|NIGSP_CA_000 |gb|CY068785.1|

Nucleotide
Chain B, Protease NL4-3
Chain B, Protease NL4-3
gi|1743124472|pdb|6OPW|B

Protein
ARSE [Sus scrofa]
ARSE [Sus scrofa]
Gene ID:100627778

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001355381	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001355381

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 15, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Diagnostics, LLC DBA Color Health, SCV001355381.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant deletes 2 nucleotides in exon 15 of the DSG2 gene, creating a frameshift and premature translation stop signal in the last exon. To our knowledge, functional studies have not been reported for this variant nor has it been reported in individuals affected with DSG2-related disorders in the literature. This variant has not been identified 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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