NM_004006.2(DMD):c.5807T>A (p.Leu1936Ter) AND Dilated cardiomyopathy 3B

delete

Germline classification:: Pathogenic (1 submission)
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:: RCV000080672.3

Allele description

NM_004006.2(DMD):c.5807T>A (p.Leu1936Ter)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.2(DMD):c.5807T>A (p.Leu1936Ter)

HGVS:

NC_000023.11:g.32342215A>T
NG_012232.1:g.1002395T>A
NM_004006.2:c.5807T>A
NP_003997.1:p.Leu1936Ter
LRG_199t1:c.5807T>A
LRG_199:g.1002395T>A
LRG_199p1:p.Leu1936Ter
NC_000023.10:g.32360332A>T
NP_003997.1:p.Leu1936*

Protein change:

L1936*

Links:

dbSNP: rs398123998

NCBI 1000 Genomes Browser:

rs398123998

Molecular consequence:

NM_004006.2:c.5807T>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Dilated cardiomyopathy 3B (CMD3B)
Synonyms:: CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy
Identifiers:: MedGen: C3668940; Orphanet: 154; OMIM: 302045

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000112574	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	no assertion criteria provided	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000112574

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

no assertion criteria provided

Pathogenic

germline

clinical testing

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	unknown	1	not provided	not provided	1445	not provided	clinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000112574.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	not provided	not provided	clinical testing (GTR000502550)	PubMed (1)
2	not provided	0	not provided	not provided	clinical testing (GTR000503195)	PubMed (1)
3	not provided	1	not provided	not provided	clinical testing (GTR000503272)	PubMed (1)
4	not provided	0	not provided	not provided	clinical testing	PubMed (1)
5	not provided	0	not provided	not provided	clinical testing	PubMed (1)
6	not provided	0	not provided	not provided	clinical testing	PubMed (1)
7	not provided	0	not provided	not provided	clinical testing	PubMed (1)
8	not provided	0	not provided	not provided	clinical testing	PubMed (1)
9	not provided	0	not provided	not provided	clinical testing	PubMed (1)
10	not provided	0	not provided	not provided	clinical testing	PubMed (1)
11	not provided	0	not provided	not provided	clinical testing	PubMed (1)
12	not provided	0	not provided	not provided	clinical testing	PubMed (1)
13	not provided	0	not provided	not provided	clinical testing	PubMed (1)
14	not provided	0	not provided	not provided	clinical testing	PubMed (1)
15	not provided	0	not provided	not provided	clinical testing	PubMed (1)
16	not provided	0	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	15	not provided	not provided	(GTR000502550)	0	not provided	not provided	not provided
2	germline	unknown	53	not provided	not provided	(GTR000503195)	0	not provided	not provided	not provided
3	germline	unknown	864	not provided	not provided	(GTR000503272)	1	not provided	not provided	not provided
4	germline	unknown	2	not provided	not provided		0	not provided	not provided	not provided
5	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
6	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
7	germline	unknown	105	not provided	not provided		0	not provided	not provided	not provided
8	germline	unknown	13	not provided	not provided		0	not provided	not provided	not provided
9	germline	unknown	11	not provided	not provided		0	not provided	not provided	not provided
10	germline	unknown	37	not provided	not provided		0	not provided	not provided	not provided
11	germline	unknown	7	not provided	not provided		0	not provided	not provided	not provided
12	germline	unknown	14	not provided	not provided		0	not provided	not provided	not provided
13	germline	unknown	2	not provided	not provided		0	not provided	not provided	not provided
14	germline	unknown	35	not provided	not provided		0	not provided	not provided	not provided
15	germline	unknown	148	not provided	not provided		0	not provided	not provided	not provided
16	germline	unknown	139	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Sep 28, 2017

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