NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs) 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:: RCV002249881.1

Allele description [Variation Report for NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)]

NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)

HGVS:

NC_000023.11:g.31323625_31323632del
NG_012232.1:g.2020982_2020989del
NM_000109.4:c.9170_9177del
NM_004006.3:c.9194_9201delMANE SELECT
NM_004009.3:c.9182_9189del
NM_004010.3:c.8825_8832del
NM_004011.4:c.5171_5178del
NM_004012.4:c.5162_5169del
NM_004013.3:c.1814_1821del
NM_004014.3:c.1007_1014del
NM_004020.4:c.1814_1821del
NM_004021.3:c.1814_1821del
NM_004022.3:c.1814_1821del
NM_004023.3:c.1814_1821del
NP_000100.3:p.Ile3057fs
NP_003997.2:p.Ile3065fs
NP_004000.1:p.Ile3061fs
NP_004001.1:p.Ile2942fs
NP_004002.3:p.Ile1724fs
NP_004003.2:p.Ile1721fs
NP_004004.2:p.Ile605fs
NP_004005.2:p.Ile336fs
NP_004011.3:p.Ile605fs
NP_004012.2:p.Ile605fs
NP_004013.2:p.Ile605fs
NP_004014.2:p.Ile605fs
LRG_199:g.2020982_2020989del
NC_000023.10:g.31341742_31341749del
NC_000023.11:g.31323621_31323628delTGGCGAGA

Protein change:

I1721fs

Links:

dbSNP: rs2148296981

NCBI 1000 Genomes Browser:

rs2148296981

Molecular consequence:

NM_000109.4:c.9170_9177del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004006.3:c.9194_9201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004009.3:c.9182_9189del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004010.3:c.8825_8832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004011.4:c.5171_5178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004012.4:c.5162_5169del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004013.3:c.1814_1821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004014.3:c.1007_1014del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004020.4:c.1814_1821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004021.3:c.1814_1821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004022.3:c.1814_1821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004023.3:c.1814_1821del - 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
SCV002519512	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

SCV002519512

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, SCV002519512.1

#	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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