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NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 17, 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:
RCV002307804.2

Allele description [Variation Report for NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)]

NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)
HGVS:
  • NC_000023.11:g.31444600T>A
  • NG_012232.1:g.1900010A>T
  • NM_000109.4:c.8941A>T
  • NM_004006.3:c.8965A>TMANE SELECT
  • NM_004009.3:c.8953A>T
  • NM_004010.3:c.8596A>T
  • NM_004011.4:c.4942A>T
  • NM_004012.4:c.4933A>T
  • NM_004013.3:c.1585A>T
  • NM_004014.3:c.778A>T
  • NM_004020.4:c.1585A>T
  • NM_004021.3:c.1585A>T
  • NM_004022.3:c.1585A>T
  • NM_004023.3:c.1585A>T
  • NP_000100.3:p.Lys2981Ter
  • NP_003997.2:p.Lys2989Ter
  • NP_004000.1:p.Lys2985Ter
  • NP_004001.1:p.Lys2866Ter
  • NP_004002.3:p.Lys1648Ter
  • NP_004003.2:p.Lys1645Ter
  • NP_004004.2:p.Lys529Ter
  • NP_004005.2:p.Lys260Ter
  • NP_004011.3:p.Lys529Ter
  • NP_004012.2:p.Lys529Ter
  • NP_004013.2:p.Lys529Ter
  • NP_004014.2:p.Lys529Ter
  • LRG_199:g.1900010A>T
  • NC_000023.10:g.31462717T>A
Protein change:
K1645*
Links:
dbSNP: rs2065154326
NCBI 1000 Genomes Browser:
rs2065154326
Molecular consequence:
  • NM_000109.4:c.8941A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004006.3:c.8965A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004009.3:c.8953A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004010.3:c.8596A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004011.4:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004012.4:c.4933A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004013.3:c.1585A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004014.3:c.778A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004020.4:c.1585A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004021.3:c.1585A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004022.3:c.1585A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004023.3:c.1585A>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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002603583Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))
Likely pathogenic
(Feb 17, 2022)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603583.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_004006.2(DMD):c.8965A>T(K2989*) 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024