NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 10, 2019
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:: RCV001264226.3

Allele description [Variation Report for NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter)]

NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter)

HGVS:

NC_000023.11:g.31657994T>A
NG_012232.1:g.1686616A>T
NM_000109.4:c.7999A>T
NM_004006.3:c.8023A>TMANE SELECT
NM_004009.3:c.8011A>T
NM_004010.3:c.7654A>T
NM_004011.4:c.4000A>T
NM_004012.4:c.3991A>T
NM_004013.3:c.643A>T
NM_004020.4:c.643A>T
NM_004021.3:c.643A>T
NM_004022.3:c.643A>T
NM_004023.3:c.643A>T
NP_000100.3:p.Lys2667Ter
NP_003997.2:p.Lys2675Ter
NP_004000.1:p.Lys2671Ter
NP_004001.1:p.Lys2552Ter
NP_004002.3:p.Lys1334Ter
NP_004003.2:p.Lys1331Ter
NP_004004.2:p.Lys215Ter
NP_004011.3:p.Lys215Ter
NP_004012.2:p.Lys215Ter
NP_004013.2:p.Lys215Ter
NP_004014.2:p.Lys215Ter
LRG_199:g.1686616A>T
NC_000023.10:g.31676111T>A

Protein change:

K1331*

Links:

dbSNP: rs2080887929

NCBI 1000 Genomes Browser:

rs2080887929

Molecular consequence:

NM_000109.4:c.7999A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004006.3:c.8023A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004009.3:c.8011A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004010.3:c.7654A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004011.4:c.4000A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004012.4:c.3991A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004013.3:c.643A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004020.4:c.643A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004021.3:c.643A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004022.3:c.643A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004023.3:c.643A>T - nonsense - [Sequence Ontology: SO:0001587]

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

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
SCV001442328	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Jan 10, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442328

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Jan 10, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV001442328.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 18, 2023

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