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

Clinical significance:Likely pathogenic (Last evaluated: Jan 10, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

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

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

DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter)
  • 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:
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]


Becker muscular dystrophy (BMD)
Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
MONDO: MONDO:0010311; MedGen: C0917713; Orphanet: 98895; OMIM: 300376
Duchenne muscular dystrophy (DMD)
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001442328Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Jan 10, 2019)
unknownclinical testing

Citation Link


NM_004006.2(DMD):c.8023A>T(K2675*) is expected to be pathogenic in the context of dystrophinopathy (including Duchenne/Becker muscular dystrophy). This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DMD, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.


Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Women's Health, Inc., SCV001442328.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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