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NM_004006.3(DMD):c.7542+1G>A AND Duchenne muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 2021
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:
RCV001956494.6

Allele description [Variation Report for NM_004006.3(DMD):c.7542+1G>A]

NM_004006.3(DMD):c.7542+1G>A

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.7542+1G>A
HGVS:
  • NC_000023.11:g.31773959C>T
  • NG_012232.1:g.1570651G>A
  • NM_000109.4:c.7518+1G>A
  • NM_004006.3:c.7542+1G>AMANE SELECT
  • NM_004009.3:c.7530+1G>A
  • NM_004010.3:c.7173+1G>A
  • NM_004011.4:c.3519+1G>A
  • NM_004012.4:c.3510+1G>A
  • NM_004013.3:c.162+1G>A
  • NM_004020.4:c.162+1G>A
  • NM_004021.3:c.162+1G>A
  • NM_004022.3:c.162+1G>A
  • NM_004023.3:c.162+1G>A
  • LRG_199:g.1570651G>A
  • NC_000023.10:g.31792076C>T
Links:
dbSNP: rs2149244412
NCBI 1000 Genomes Browser:
rs2149244412
Molecular consequence:
  • NM_000109.4:c.7518+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004006.3:c.7542+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004009.3:c.7530+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004010.3:c.7173+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004011.4:c.3519+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004012.4:c.3510+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004013.3:c.162+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004020.4:c.162+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004021.3:c.162+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004022.3:c.162+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004023.3:c.162+1G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002247446Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 26, 2021) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F.

Hum Mutat. 2007 Feb;28(2):183-95.

PubMed [citation]
PMID:
17041906

Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis.

Ikezawa M, Minami N, Takahashi M, Goto Y, Miike T, Nonaka I.

Brain Dev. 1998 Apr;20(3):165-8.

PubMed [citation]
PMID:
9628192
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002247446.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with DMD-related conditions (PMID: 17041906, 9628192). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 51 of the DMD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024