NM_001927.4(DES):c.1360C>T (p.Arg454Trp) AND Primary dilated cardiomyopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 9, 2017
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:: RCV000498999.9

Allele description [Variation Report for NM_001927.4(DES):c.1360C>T (p.Arg454Trp)]

NM_001927.4(DES):c.1360C>T (p.Arg454Trp)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.1360C>T (p.Arg454Trp)

HGVS:

NC_000002.12:g.219425734C>T
NG_008043.1:g.12358C>T
NM_001927.4:c.1360C>TMANE SELECT
NP_001918.3:p.Arg454Trp
LRG_380t1:c.1360C>T
LRG_380:g.12358C>T
NC_000002.11:g.220290456C>T
NM_001927.3:c.1360C>T
P17661:p.Arg454Trp

Protein change:

R454W

Links:

UniProtKB: P17661#VAR_042462; dbSNP: rs267607490

NCBI 1000 Genomes Browser:

rs267607490

Molecular consequence:

NM_001927.4:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function

Observations:

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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
SCV000579529	Center for Human Genetics, University of Leuven	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 9, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579529

Center for Human Genetics, University of Leuven

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 9, 2017)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	2	2	not provided	not provided	yes	clinical testing

Details of each submission

From Center for Human Genetics, University of Leuven, SCV000579529.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	2	not provided	yes	clinical testing	not provided

Description

ACMG score pathogenic

#	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		2	not provided	2	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine