NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs) AND Becker muscular dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002249894.1

Allele description [Variation Report for NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)]

NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)

HGVS:

NC_000023.11:g.32346002_32346005del
NG_012232.1:g.998607_998610del
NM_000109.4:c.5502_5505del
NM_004006.3:c.5526_5529delMANE SELECT
NM_004009.3:c.5514_5517del
NM_004010.3:c.5157_5160del
NM_004011.4:c.1503_1506del
NM_004012.4:c.1494_1497del
NP_000100.3:p.Arg1834fs
NP_003997.2:p.Arg1842fs
NP_004000.1:p.Arg1838fs
NP_004001.1:p.Arg1719fs
NP_004002.3:p.Arg501fs
NP_004003.2:p.Arg498fs
LRG_199:g.998607_998610del
NC_000023.10:g.32364119_32364122del
NC_000023.11:g.32346000_32346003delCTTT

Protein change:

R1719fs

Links:

dbSNP: rs2147031776

NCBI 1000 Genomes Browser:

rs2147031776

Molecular consequence:

NM_000109.4:c.5502_5505del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004006.3:c.5526_5529del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004009.3:c.5514_5517del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004010.3:c.5157_5160del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004011.4:c.1503_1506del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004012.4:c.1494_1497del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Becker muscular dystrophy (BMD)
Synonyms:: Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
Identifiers:: MONDO: MONDO:0010311; MedGen: C0917713; Orphanet: 98895; OMIM: 300376

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002519533	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519533

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002519533.1

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

Last Updated: Dec 24, 2023

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