NM_004409.5(DMPK):c.*224CTG[43] AND Steinert myotonic dystrophy syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV000999665.1

Allele description [Variation Report for NM_004409.5(DMPK):c.*224CTG[43]]

NM_004409.5(DMPK):c.*224CTG[43]

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[43]

HGVS:

NC_000019.10:g.45770207GCA[43]
NC_000019.10:g.45770207_45770209GCA[43]
NG_009784.1:g.17294CTG[43]
NG_012745.1:g.3976CTG[43]
NG_012745.2:g.3988CTG[43]
NG_046372.1:g.3515GCA[43]
NG_052615.1:g.103GCA[43]
NG_162097.1:g.76GCA[43]
NM_001081560.3:c.*224CTG[43]
NM_001081562.3:c.*217CTG[43]
NM_001081563.3:c.*222_*224TGC[43]
NM_001288764.2:c.*224CTG[43]
NM_001288765.2:c.*217CTG[43]
NM_001288766.2:c.*369CTG[43]
NM_001424162.1:c.*217CTG[43]
NM_001424163.1:c.*217CTG[43]
NM_001424164.1:c.*369CTG[43]
NM_001424165.1:c.*224CTG[43]
NM_001424166.1:c.*217CTG[43]
NM_001424168.1:c.*369CTG[43]
NM_001424169.1:c.*224CTG[43]
NM_004409.5:c.*224CTG[43]MANE SELECT
NC_000019.9:g.46273465GCA[43]
NM_001081563.2:c.*224CTG[43]

Molecular consequence:

NM_001081560.3:c.*224CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001081562.3:c.*217CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288764.2:c.*224CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288765.2:c.*217CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288766.2:c.*369CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001424162.1:c.*217CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001424163.1:c.*217CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001424164.1:c.*369CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001424165.1:c.*224CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001424166.1:c.*217CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001424168.1:c.*369CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001424169.1:c.*224CTG[43] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004409.5:c.*224CTG[43] - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001156458	Neuromuscular 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)	maternal, paternal, inherited	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22643181, 32203199

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001156458

Neuromuscular 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)

maternal, paternal, inherited

clinical testing

PubMed (2)
[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	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H.

Eur J Hum Genet. 2012 Dec;20(12):1203-8. doi: 10.1038/ejhg.2012.108. Epub 2012 May 30.

PubMed [citation]

PMID:: 22643181
PMCID:: PMC3499739

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.

Joosten IBT, Hellebrekers DMEI, de Greef BTA, Smeets HJM, de Die-Smulders CEM, Faber CG, Gerrits MM.

Eur J Hum Genet. 2020 Jul;28(7):956-962. doi: 10.1038/s41431-020-0601-4. Epub 2020 Mar 12.

PubMed [citation]

PMID:: 32203199
PMCID:: PMC7316980

Details of each submission

From Neuromuscular Research, Maastricht University Medical Centre, SCV001156458.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)
2	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)
3	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)
4	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)
5	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
3	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
4	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
5	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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