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

This record was updated by the submitter. Please see the current version.

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:: RCV000464014.6

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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DPY19L1 dpy-19 like C-mannosyltransferase 1 [Homo sapiens]
DPY19L1 dpy-19 like C-mannosyltransferase 1 [Homo sapiens]
Gene ID:23333

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000550261	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Jul 22, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20485447, 16770791, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000550261

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Jul 22, 2016)

germline

clinical testing

PubMed (3)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

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

Last Updated: Jun 23, 2024

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