NM_004006.3(DMD):c.4961del (p.Ser1654fs) AND Duchenne muscular dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 16, 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:: RCV002470697.1

Allele description [Variation Report for NM_004006.3(DMD):c.4961del (p.Ser1654fs)]

NM_004006.3(DMD):c.4961del (p.Ser1654fs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.4961del (p.Ser1654fs)

HGVS:

NC_000023.11:g.32365084del
NG_012232.1:g.979526del
NM_000109.4:c.4937del
NM_004006.3:c.4961delMANE SELECT
NM_004009.3:c.4949del
NM_004010.3:c.4592del
NM_004011.4:c.938del
NM_004012.4:c.929del
NP_000100.3:p.Ser1646fs
NP_003997.1:p.Ser1654Ilefs
NP_003997.2:p.Ser1654fs
NP_004000.1:p.Ser1650fs
NP_004001.1:p.Ser1531fs
NP_004002.3:p.Ser313fs
NP_004003.2:p.Ser310fs
LRG_199t1:c.4961del
LRG_199:g.979526del
LRG_199p1:p.Ser1654Ilefs
NC_000023.10:g.32383201del
NM_004006.2:c.4961delG

Protein change:

S1531fs

Molecular consequence:

NM_000109.4:c.4937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004006.3:c.4961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004009.3:c.4949del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004010.3:c.4592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004011.4:c.938del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004012.4:c.929del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Duchenne muscular dystrophy (DMD)
Synonyms:: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:: MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002769605	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 16, 2022)	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

SCV002769605

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 16, 2022)

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

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 Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002769605.1

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

Description

PVS1, PM2

#	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: Nov 10, 2024

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