NM_004006.3(DMD):c.5656dup (p.Ala1886fs) AND Duchenne muscular dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 22, 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:: RCV002052050.1

Allele description [Variation Report for NM_004006.3(DMD):c.5656dup (p.Ala1886fs)]

NM_004006.3(DMD):c.5656dup (p.Ala1886fs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.5656dup (p.Ala1886fs)

HGVS:

NC_000023.11:g.32343218dup
NG_012232.1:g.1001393dup
NM_000109.4:c.5632dup
NM_004006.3:c.5656dupMANE SELECT
NM_004009.3:c.5644dup
NM_004010.3:c.5287dup
NM_004011.4:c.1633dup
NM_004012.4:c.1624dup
NP_000100.3:p.Ala1878fs
NP_003997.2:p.Ala1886fs
NP_004000.1:p.Ala1882fs
NP_004001.1:p.Ala1763fs
NP_004002.3:p.Ala545fs
NP_004003.2:p.Ala542fs
LRG_199:g.1001393dup
NC_000023.10:g.32361335dup

Protein change:

A1763fs

Links:

dbSNP: rs2146991528

NCBI 1000 Genomes Browser:

rs2146991528

Molecular consequence:

NM_000109.4:c.5632dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004006.3:c.5656dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004009.3:c.5644dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004010.3:c.5287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004011.4:c.1633dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004012.4:c.1624dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV002318454	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 22, 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

SCV002318454

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 22, 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	1	not provided	not provided	1	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 3billion, SCV002318454.1

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

Description

Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant.It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Nov 10, 2024

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