NM_004006.3(DMD):c.7474_7477dup (p.Ile2493fs) AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 28, 2023
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:: RCV003232946.1

Allele description [Variation Report for NM_004006.3(DMD):c.7474_7477dup (p.Ile2493fs)]

NM_004006.3(DMD):c.7474_7477dup (p.Ile2493fs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.7474_7477dup (p.Ile2493fs)

HGVS:

NC_000023.11:g.31774026_31774029dup
NG_012232.1:g.1570582_1570585dup
NM_000109.4:c.7450_7453dup
NM_004006.3:c.7474_7477dupMANE SELECT
NM_004009.3:c.7462_7465dup
NM_004010.3:c.7105_7108dup
NM_004011.4:c.3451_3454dup
NM_004012.4:c.3442_3445dup
NM_004013.3:c.94_97dup
NM_004020.4:c.94_97dup
NM_004021.3:c.94_97dup
NM_004022.3:c.94_97dup
NM_004023.3:c.94_97dup
NP_000100.3:p.Ile2485fs
NP_003997.1:p.Ile2493Serfs
NP_003997.2:p.Ile2493fs
NP_004000.1:p.Ile2489fs
NP_004001.1:p.Ile2370fs
NP_004002.3:p.Ile1152fs
NP_004003.2:p.Ile1149fs
NP_004004.2:p.Ile33fs
NP_004011.3:p.Ile33fs
NP_004012.2:p.Ile33fs
NP_004013.2:p.Ile33fs
NP_004014.2:p.Ile33fs
LRG_199t1:c.7473_7476dup
LRG_199:g.1570582_1570585dup
LRG_199p1:p.Ile2493Serfs
NC_000023.10:g.31792143_31792146dup
NM_004006.2:c.7473_7476dup

Protein change:

I1149fs

Molecular consequence:

NM_000109.4:c.7450_7453dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004006.3:c.7474_7477dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004009.3:c.7462_7465dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004010.3:c.7105_7108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004011.4:c.3451_3454dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004012.4:c.3442_3445dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004013.3:c.94_97dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004020.4:c.94_97dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004021.3:c.94_97dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004022.3:c.94_97dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004023.3:c.94_97dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003929515	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 28, 2023)	unknown	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

SCV003929515

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 28, 2023)

unknown

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	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University Hospital Muenster, SCV003929515.1

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

Description

ACMG categories: PVS1,PM2,PP4

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

Last Updated: Jun 17, 2023

ClinVar

Relating variation to medicine