NM_004006.3(DMD):c.3603+2T>G AND Duchenne muscular dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1994
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:: RCV000011980.14

Allele description [Variation Report for NM_004006.3(DMD):c.3603+2T>G]

NM_004006.3(DMD):c.3603+2T>G

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.3603+2T>G

HGVS:

NC_000023.11:g.32454660A>C
NG_012232.1:g.889950T>G
NM_000109.4:c.3579+2T>G
NM_004006.3:c.3603+2T>GMANE SELECT
NM_004009.3:c.3591+2T>G
NM_004010.3:c.3234+2T>G
LRG_199t1:c.3603+2T>G
LRG_199:g.889950T>G
NC_000023.10:g.32472777A>C
NM_004006.2:c.3603+2T>G

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS26, T-G, +2

Links:

OMIM: 300377.0022; dbSNP: rs146071084

NCBI 1000 Genomes Browser:

rs146071084

Molecular consequence:

NM_000109.4:c.3579+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004006.3:c.3603+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004009.3:c.3591+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004010.3:c.3234+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Duchenne muscular dystrophy (DMD)
Synonyms:: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:: MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032214	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032214

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1994)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.

Wilton SD, Chandler DC, Kakulas BA, Laing NG.

Hum Mutat. 1994;3(2):133-40.

PubMed [citation]

PMID:: 8199594

Details of each submission

From OMIM, SCV000032214.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Wilton et al. (1994) used RT-PCR to identify a larger than normal dystrophin mRNA from 2 brothers with Duchenne muscular dystrophy (DMD; 310200). The increased size of the dystrophin mRNA was due to a splice site mutation at the exon 26/intron 26 junction where a T-to-G substitution prevented normal RNA processing. A cryptic splice site, downstream of the mutation, was activated during processing, resulting in the inclusion of 117 bases of intron 26. This insertion introduced an in-frame stop codon into the mature dystrophin mRNA. Using an allele-specific test, Wilton et al. (1994) found that the mother did not carry the mutation and her oldest daughter, designated as a carrier on the basis of conventional testing and haplotype analysis, also did not carry the DMD mutation. Initial haplotyping of the family had appeared to be straightforward with gonadal mosaicism becoming evident only after allele-specific analysis. The application of linked markers to identify the disease locus for conventional genetic counseling would have been erroneous in this family.

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

Last Updated: Jun 17, 2024

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