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NM_004006.3(DMD):c.8391-1_8391delinsAA AND Duchenne muscular dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 22, 2016
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:
RCV000464014.5

Allele description

NM_004006.3(DMD):c.8391-1_8391delinsAA

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.8391-1_8391delinsAA
HGVS:
  • NC_000023.11:g.31496944_31496945delinsTT
  • NG_012232.1:g.1847665_1847666delinsAA
  • NM_000109.4:c.8367-1_8367delinsAA
  • NM_004006.3:c.8391-1_8391delinsAAMANE SELECT
  • NM_004009.3:c.8379-1_8379delinsAA
  • NM_004010.3:c.8022-1_8022delinsAA
  • NM_004011.4:c.4368-1_4368delinsAA
  • NM_004012.4:c.4359-1_4359delinsAA
  • NM_004013.3:c.1011-1_1011delinsAA
  • NM_004014.3:c.204-1_204delinsAA
  • NM_004020.4:c.1011-1_1011delinsAA
  • NM_004021.3:c.1011-1_1011delinsAA
  • NM_004022.3:c.1011-1_1011delinsAA
  • NM_004023.3:c.1011-1_1011delinsAA
  • LRG_199t1:c.8391-1_8391delinsAA
  • LRG_199:g.1847665_1847666delinsAA
  • NC_000023.10:g.31515061_31515062delinsTT
  • NM_004006.2:c.8391-1_8391delGGinsAA
  • NM_004006.2:c.8391-1_8391delinsAA
Links:
dbSNP: rs1060502619
NCBI 1000 Genomes Browser:
rs1060502619
Molecular consequence:
  • NM_000109.4:c.8367-1_8367delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004006.3:c.8391-1_8391delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004009.3:c.8379-1_8379delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004010.3:c.8022-1_8022delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004011.4:c.4368-1_4368delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004012.4:c.4359-1_4359delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004013.3:c.1011-1_1011delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004014.3:c.204-1_204delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004020.4:c.1011-1_1011delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004021.3:c.1011-1_1011delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004022.3:c.1011-1_1011delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004023.3:c.1011-1_1011delinsAA - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000550261Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Jul 22, 2016) 		germlineclinical testing

PubMed (3)
[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

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M.

J Hum Genet. 2010 Jun;55(6):379-88. doi: 10.1038/jhg.2010.49. Epub 2010 May 20.

PubMed [citation]
PMID:
20485447

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT.

Muscle Nerve. 2006 Aug;34(2):135-44. Review.

PubMed [citation]
PMID:
16770791
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000550261.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change affects an acceptor splice site in intron 56 of the DMD gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This sequence change also effects the first nucleotide of exon 57. A similar variant, which is predicted to have the same effect on splicing (c.8391-1G>A) has been reported in the literature in an individual affected with Duchenne muscular dystrophy (DMD)  (PMID: 20485447). In addition, other splice site variants in DMD are known to be pathogenic (PMID: 16770791). For these reasons, this variant has been classified as Likely Pathogenic.

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

Last Updated: Feb 28, 2024