NM_004006.3(DMD):c.8069T>G (p.Leu2690Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 3, 2016
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:: RCV000080779.7

Allele description [Variation Report for NM_004006.3(DMD):c.8069T>G (p.Leu2690Ter)]

NM_004006.3(DMD):c.8069T>G (p.Leu2690Ter)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.8069T>G (p.Leu2690Ter)

Other names:

NP_003997.1:p.Leu2690*

HGVS:

NC_000023.11:g.31627821A>C
NG_012232.1:g.1716789T>G
NM_000109.4:c.8045T>G
NM_004006.3:c.8069T>GMANE SELECT
NM_004009.3:c.8057T>G
NM_004010.3:c.7700T>G
NM_004011.4:c.4046T>G
NM_004012.4:c.4037T>G
NM_004013.3:c.689T>G
NM_004020.4:c.689T>G
NM_004021.3:c.689T>G
NM_004022.3:c.689T>G
NM_004023.3:c.689T>G
NP_000100.3:p.Leu2682Ter
NP_003997.1:p.Leu2690Ter
NP_003997.2:p.Leu2690Ter
NP_004000.1:p.Leu2686Ter
NP_004001.1:p.Leu2567Ter
NP_004002.3:p.Leu1349Ter
NP_004003.2:p.Leu1346Ter
NP_004004.2:p.Leu230Ter
NP_004011.3:p.Leu230Ter
NP_004012.2:p.Leu230Ter
NP_004013.2:p.Leu230Ter
NP_004014.2:p.Leu230Ter
LRG_199t1:c.8069T>G
LRG_199:g.1716789T>G
LRG_199p1:p.Leu2690Ter
NC_000023.10:g.31645938A>C
NM_004006.2:c.8069T>G

Protein change:

L1346*

Links:

dbSNP: rs398124061

NCBI 1000 Genomes Browser:

rs398124061

Molecular consequence:

NM_000109.4:c.8045T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004006.3:c.8069T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004009.3:c.8057T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004010.3:c.7700T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004011.4:c.4046T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004012.4:c.4037T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004013.3:c.689T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004020.4:c.689T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004021.3:c.689T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004022.3:c.689T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_004023.3:c.689T>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000112681	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Feb 3, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000112681

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Feb 3, 2016)

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	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000112681.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

Last Updated: Apr 1, 2023

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