NM_004015.2(DMD):c.-211485A>T AND not specified

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

Germline classification:: Benign (3 submissions)
Last evaluated:: Mar 21, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000080810.6

Allele description

NM_004015.2(DMD):c.-211485A>T

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004015.2(DMD):c.-211485A>T

HGVS:

NC_000023.11:g.31478314T>A
NG_012232.1:g.1866296A>T
NM_004006.2:c.8729A>T
NM_004015.2:c.-211485A>T
NP_003997.1:p.Glu2910Val
LRG_199t1:c.8729A>T
LRG_199:g.1866296A>T
LRG_199p1:p.Glu2910Val
NC_000023.10:g.31496431T>A
NM_004015.1:c.-211485A>T
p.E2910V:GAG>GTG

Protein change:

E2910V; GLU2910VAL

Links:

OMIM: 300377.0061; dbSNP: rs41305353

GMAF:

0.0358(A), 41305353

NCBI 1000 Genomes Browser:

rs41305353

Allele Frequency:

0.0303, GO-ESP

Molecular consequence:

NM_004006.2:c.8729A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000112712	Emory Genetics Laboratory,Emory University	criteria provided, single submitter (EGL Classification Definitions)	Benign (Aug 8, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000168145	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 17, 2014)	germline	clinical testing	Citation Link,
SCV000268974	Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 21, 2015)	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

SCV000112712

Emory Genetics Laboratory,Emory University

criteria provided, single submitter

(EGL Classification Definitions)

Benign
(Aug 8, 2014)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000168145

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jan 17, 2014)

germline

clinical testing

Citation Link,

SCV000268974

Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Mar 21, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	19	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	5	5	not provided	not provided	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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Emory Genetics Laboratory,Emory University, SCV000112712.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	19	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	not provided	not provided	not provided		19	not provided	not provided	not provided

From GeneDx, SCV000168145.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000268974.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (1)

Description

p.Glu2910Val in exon 59 of DMD: This variant is not expected to have clinical significance because it has been identified in 7.3% (768/10496) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs41305353).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		5	not provided	5	not provided

Last Updated: Sep 24, 2016

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