NM_004006.3(DMD):c.9225-647A>G AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 11, 2024
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:: RCV000080835.12

Allele description [Variation Report for NM_004006.3(DMD):c.9225-647A>G]

NM_004006.3(DMD):c.9225-647A>G

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004006.3(DMD):c.9225-647A>G

HGVS:

NC_000023.11:g.31261663T>C
NG_012232.1:g.2082947A>G
NM_000109.4:c.9201-647A>G
NM_004006.3:c.9225-647A>GMANE SELECT
NM_004009.3:c.9213-647A>G
NM_004010.3:c.8856-647A>G
NM_004011.4:c.5202-647A>G
NM_004012.4:c.5193-647A>G
NM_004013.3:c.1845-647A>G
NM_004014.3:c.1038-647A>G
NM_004015.3:c.21-647A>G
NM_004016.3:c.21-647A>G
NM_004017.3:c.21-647A>G
NM_004018.3:c.21-647A>G
NM_004019.3:c.21-647A>G
NM_004020.4:c.1845-647A>G
NM_004021.3:c.1845-647A>G
NM_004022.3:c.1845-647A>G
NM_004023.3:c.1845-647A>G
LRG_199t1:c.9225-647A>G
LRG_199:g.2082947A>G
NC_000023.10:g.31279780T>C
NM_004006.2:c.9225-647A>G

Links:

dbSNP: rs398124091

NCBI 1000 Genomes Browser:

rs398124091

Molecular consequence:

NM_000109.4:c.9201-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004006.3:c.9225-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004009.3:c.9213-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004010.3:c.8856-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004011.4:c.5202-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004012.4:c.5193-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004013.3:c.1845-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004014.3:c.1038-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004015.3:c.21-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004016.3:c.21-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004017.3:c.21-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004018.3:c.21-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004019.3:c.21-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004020.4:c.1845-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004021.3:c.1845-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004022.3:c.1845-647A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004023.3:c.1845-647A>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000112737	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Apr 29, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002504145	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 11, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000112737

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Apr 29, 2014)

germline

clinical testing

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

Citation Link,

SCV002504145

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 11, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, et al.

Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14.

PubMed [citation]

PMID:: 19602481

Details of each submission

From Eurofins Ntd Llc (ga), SCV000112737.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

From GeneDx, SCV002504145.3

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

Description

Published functional studies demonstrate a damaging effect, as RT-PCR of patient muscle shows the variant causes a cryptic 5' splice site activation, leading to an abnormal transcript in the presence of residual wild type transcript (PMID: 19602481, 23536893); No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 23536893, 14659407, 19602481, 17041906, 32176650, Kumaraku2022[Article], 19367636, 28597072, 35165973, 34297739)

#	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

Last Updated: Sep 16, 2024

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