NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 2, 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:: RCV000181248.11

Allele description [Variation Report for NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)]

NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)

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.918G>A (p.Trp306Ter)

Other names:

W305*; p.W306*:TGG>TGA

HGVS:

NC_000018.10:g.31524792G>A
NG_007072.3:g.31551G>A
NM_001943.5:c.918G>AMANE SELECT
NP_001934.2:p.Trp306Ter
NP_001934.2:p.Trp306Ter
LRG_397t1:c.918G>A
LRG_397:g.31551G>A
LRG_397p1:p.Trp306Ter
NC_000018.9:g.29104755G>A
NG_007072.2:g.31551G>A
NM_001943.3:c.918G>A

Note:

NCBI staff reviewed the sequence information reported in PubMed 16773573 to determine the location of this allele on current reference sequence.

Protein change:

W306*; TRP305TER

Links:

OMIM: 125671.0002; dbSNP: rs121913007

NCBI 1000 Genomes Browser:

rs121913007

Molecular consequence:

NM_001943.5:c.918G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000233527	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Nov 2, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000233527

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Nov 2, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000233527.10

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

Description

Variant, reported as c.915G>A (W305X) using alternate nomenclature, was observed in the compound heterozygous state with DSG2 R48H in an individual with ARVC, as well as in the heterozygous state in two unaffected relatives (PMID: 16773573); Observed in an individual with ARVC (PMID: 31386562); Not observed at a significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 20857253, 25525159, 20031617, 31402444, 31386562, 16773573)

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine