NM_004409.5(DMPK):c.*224CTG[614] AND Steinert myotonic dystrophy syndrome

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000167734.1

Allele description [Variation Report for NM_004409.5(DMPK):c.*224CTG[614]]

NM_004409.5(DMPK):c.*224CTG[614]

Genes:

LOC109461477:dystrophia myotonica protein kinase repeat instability region [Gene]
DM1-AS:DM1 locus antisense RNA [Gene - HGNC]
DMPK:DM1 protein kinase [Gene - OMIM - HGNC]
LOC107075317:origin of replication in DMPK trinucleotide repeat region [Gene]

Variant type:

Microsatellite

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_004409.5(DMPK):c.*224CTG[614]

Other names:

DM1 CTG repeat expansion

HGVS:

NC_000019.10:g.45770207GCA[614]
NG_009784.1:g.17294CTG[614]
NG_012745.1:g.3976CTG[614]
NG_046372.1:g.3515GCA[614]
NG_052615.1:g.103GCA[614]
NM_001081560.3:c.*224CTG[614]
NM_001081562.3:c.*217CTG[614]
NM_001081563.2:c.*224CTG[614]
NM_001288764.2:c.*224CTG[614]
NM_001288765.2:c.*217CTG[614]
NM_001288766.2:c.*369CTG[614]
NM_004409.5:c.*224CTG[614]MANE SELECT
NC_000019.9:g.46273465GCA[614]

Molecular consequence:

NM_001081560.3:c.*224CTG[614] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001081562.3:c.*217CTG[614] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001081563.2:c.*224CTG[614] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288764.2:c.*224CTG[614] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288765.2:c.*217CTG[614] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288766.2:c.*369CTG[614] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004409.5:c.*224CTG[614] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Steinert myotonic dystrophy syndrome (DM1)
Synonyms:: Myotonic dystrophy type 1; Dystrophia myotonica type 1; Steinert disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008056; MedGen: C3250443; Orphanet: 273; OMIM: 160900

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
SCV000207550	Institute of Molecular, Cell and Systems Biology, University of Glasgow	no assertion criteria provided (research)	Pathogenic	germline	research	PubMed (5) [See all records that cite these PMIDs] 1346923, 1546326, 7711720, 22595968, 25052313

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207550

Institute of Molecular, Cell and Systems Biology, University of Glasgow

no assertion criteria provided

(research)

Pathogenic

germline

research

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	Yes	research

Citations

PubMed

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ.

Nature. 1992 Feb 6;355(6360):545-6.

PubMed [citation]

PMID:: 1346923

An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, et al.

Science. 1992 Mar 6;255(5049):1256-8.

PubMed [citation]

PMID:: 1546326

See all PubMed Citations (5)

Details of each submission

From Institute of Molecular, Cell and Systems Biology, University of Glasgow, SCV000207550.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	Yes	research	PubMed (5)

Description

DMPK CTG repeat expansions greater than approximately 45-50 repeats are assumed to be pathogenic

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine