NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 13, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000348940.11

Allele description [Variation Report for NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)]

NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)

HGVS:

NC_000023.11:g.31627852G>A
NG_012232.1:g.1716758C>T
NM_000109.4:c.8014C>T
NM_004006.3:c.8038C>TMANE SELECT
NM_004009.3:c.8026C>T
NM_004010.3:c.7669C>T
NM_004011.4:c.4015C>T
NM_004012.4:c.4006C>T
NM_004013.3:c.658C>T
NM_004020.4:c.658C>T
NM_004021.3:c.658C>T
NM_004022.3:c.658C>T
NM_004023.3:c.658C>T
NP_000100.3:p.Arg2672Ter
NP_003997.1:p.Arg2680Ter
NP_003997.2:p.Arg2680Ter
NP_004000.1:p.Arg2676Ter
NP_004001.1:p.Arg2557Ter
NP_004002.3:p.Arg1339Ter
NP_004003.2:p.Arg1336Ter
NP_004004.2:p.Arg220Ter
NP_004011.3:p.Arg220Ter
NP_004012.2:p.Arg220Ter
NP_004013.2:p.Arg220Ter
NP_004014.2:p.Arg220Ter
LRG_199t1:c.8038C>T
LRG_199:g.1716758C>T
LRG_199p1:p.Arg2680Ter
NC_000023.10:g.31645969G>A
NM_004006.2:c.8038C>T

Protein change:

R1336*

Links:

dbSNP: rs863225011

NCBI 1000 Genomes Browser:

rs863225011

Molecular consequence:

NM_000109.4:c.8014C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004006.3:c.8038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004009.3:c.8026C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004010.3:c.7669C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004011.4:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004012.4:c.4006C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004013.3:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004020.4:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004021.3:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004022.3:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004023.3:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255750	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Sep 20, 2018)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 15351422, 21396098, 25612904, 19835634, 19937601, 17041906, 18583217, 26467025
SCV000345653	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Sep 1, 2016)	germline	clinical testing	Citation Link,
SCV002019385	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 13, 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

SCV000255750

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Sep 20, 2018)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

SCV000345653

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Sep 1, 2016)

germline

clinical testing

Citation Link,

SCV002019385

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 13, 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	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M.

Neuromuscul Disord. 2004 Oct;14(10):650-8.

PubMed [citation]

PMID:: 15351422

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Med Genet. 2011 Mar 11;12:37. doi: 10.1186/1471-2350-12-37.

PubMed [citation]

PMID:: 21396098
PMCID:: PMC3061890

See all PubMed Citations (9)

Details of each submission

From Athena Diagnostics, SCV000255750.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

#	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

From Eurofins Ntd Llc (ga), SCV000345653.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002019385.3

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

#	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: Sep 29, 2024

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