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NM_004409.5(DMPK):c.*224CTG[92] AND Steinert myotonic dystrophy syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 26, 2019
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:
RCV000167760.3

Allele description [Variation Report for NM_004409.5(DMPK):c.*224CTG[92]]

NM_004409.5(DMPK):c.*224CTG[92]

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[92]
Other names:
DM1 CTG repeat expansion
HGVS:
  • NC_000019.10:g.45770207GCA[92]
  • NG_009784.1:g.17294CTG[92]
  • NG_012745.1:g.3976CTG[92]
  • NG_012745.2:g.3988CTG[92]
  • NG_046372.1:g.3515GCA[92]
  • NG_052615.1:g.103GCA[92]
  • NG_162097.1:g.76GCA[92]
  • NM_001081560.3:c.*224CTG[92]
  • NM_001081562.3:c.*217CTG[92]
  • NM_001081563.3:c.*222_*224TGC[92]
  • NM_001288764.2:c.*224CTG[92]
  • NM_001288765.2:c.*217CTG[92]
  • NM_001288766.2:c.*369CTG[92]
  • NM_001424162.1:c.*217CTG[92]
  • NM_001424163.1:c.*217CTG[92]
  • NM_001424164.1:c.*369CTG[92]
  • NM_001424165.1:c.*224CTG[92]
  • NM_001424166.1:c.*217CTG[92]
  • NM_001424168.1:c.*369CTG[92]
  • NM_001424169.1:c.*224CTG[92]
  • NM_004409.5:c.*224CTG[92]MANE SELECT
  • NC_000019.9:g.46273465GCA[92]
  • NM_001081563.2:c.*224CTG[92]
Molecular consequence:
  • NM_001081560.3:c.*224CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001081562.3:c.*217CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001288764.2:c.*224CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001288765.2:c.*217CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001288766.2:c.*369CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001424162.1:c.*217CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001424163.1:c.*217CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001424164.1:c.*369CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001424165.1:c.*224CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001424166.1:c.*217CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001424168.1:c.*369CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001424169.1:c.*224CTG[92] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004409.5:c.*224CTG[92] - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207576Institute of Molecular, Cell and Systems Biology, University of Glasgow
no assertion criteria provided

(research)		Pathogenicgermlineresearch

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

SCV001156455Neuromuscular Research, Maastricht University Medical Centre
criteria provided, single submitter

(Best practice guidelines on molecular diagnosis DM1 and DM2, Kamsteeg et al. 2012)		Pathogenic
(Nov 26, 2019) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided2Yesresearch
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

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 (7)

Details of each submission

From Institute of Molecular, Cell and Systems Biology, University of Glasgow, SCV000207576.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedYesresearch PubMed (5)
2not provided1not providedYesresearch PubMed (5)

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1peripheral bloodnot provided1not providednot providednot provided
2germlineyes1peripheral bloodnot provided1not providednot providednot provided

From Neuromuscular Research, Maastricht University Medical Centre, SCV001156455.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024