NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Feb 29, 2020)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001264223.1

Allele description [Variation Report for NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter)]

NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter)
HGVS:
  • NC_000023.11:g.31478992C>A
  • NG_012232.1:g.1865618G>T
  • NM_000109.4:c.8635G>T
  • NM_004006.3:c.8659G>TMANE SELECT
  • NM_004009.3:c.8647G>T
  • NM_004010.3:c.8290G>T
  • NM_004011.4:c.4636G>T
  • NM_004012.4:c.4627G>T
  • NM_004013.3:c.1279G>T
  • NM_004014.3:c.472G>T
  • NM_004020.4:c.1279G>T
  • NM_004021.3:c.1279G>T
  • NM_004022.3:c.1279G>T
  • NM_004023.3:c.1279G>T
  • NP_000100.3:p.Glu2879Ter
  • NP_003997.2:p.Glu2887Ter
  • NP_004000.1:p.Glu2883Ter
  • NP_004001.1:p.Glu2764Ter
  • NP_004002.3:p.Glu1546Ter
  • NP_004003.2:p.Glu1543Ter
  • NP_004004.2:p.Glu427Ter
  • NP_004005.2:p.Glu158Ter
  • NP_004011.3:p.Glu427Ter
  • NP_004012.2:p.Glu427Ter
  • NP_004013.2:p.Glu427Ter
  • NP_004014.2:p.Glu427Ter
  • LRG_199:g.1865618G>T
  • NC_000023.10:g.31497109C>A
Protein change:
E1543*
Molecular consequence:
  • NM_000109.4:c.8635G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004006.3:c.8659G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004009.3:c.8647G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004010.3:c.8290G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004011.4:c.4636G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004012.4:c.4627G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004013.3:c.1279G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004014.3:c.472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004020.4:c.1279G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004021.3:c.1279G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004022.3:c.1279G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004023.3:c.1279G>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
SCV001442325Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Feb 29, 2020)
unknownclinical testing

Citation Link

Description

NM_004006.2(DMD):c.8659G>T(E2887*) 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.

SCV001442325

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., SCV001442325.1

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

Last Updated: Jun 14, 2021

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