NM_004006.2(DMD):c.9125delA (p.His3042Profs) AND Duchenne muscular dystrophy

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 21, 2013
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:: RCV000179588.1

Allele description

NM_004006.2(DMD):c.9125delA (p.His3042Profs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004006.2(DMD):c.9125delA (p.His3042Profs)

HGVS:

NC_000023.11:g.31348594delT
NM_004006.2:c.9125delA
NP_003997.1:p.His3042Profs
LRG_199t1:c.9125del
LRG_199:g.1996016del
LRG_199p1:p.His3042Profs
NC_000023.10:g.31366711delT

Links:

dbSNP: rs398124080

NCBI 1000 Genomes Browser:

rs398124080

Molecular consequence:

NM_004006.2:c.9125delA - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Duchenne muscular dystrophy (DMD)
Identifiers:: MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000231856	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Jan 21, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000231856

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Jan 21, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000231856.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

Last Updated: Jun 17, 2019

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