NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 4, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000725426.3

Allele description [Variation Report for NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)]

NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
HGVS:
  • NC_000023.11:g.31178789TCT[1]
  • NG_012232.1:g.2165816AGA[1]
  • NM_000109.4:c.10074AGA[1]
  • NM_004006.3:c.10098AGA[1]MANE SELECT
  • NM_004009.3:c.10086AGA[1]
  • NM_004010.3:c.9729AGA[1]
  • NM_004011.4:c.6075AGA[1]
  • NM_004012.4:c.6066AGA[1]
  • NM_004013.3:c.2718AGA[1]
  • NM_004014.3:c.1911AGA[1]
  • NM_004015.3:c.894AGA[1]
  • NM_004016.3:c.894AGA[1]
  • NM_004017.3:c.894AGA[1]
  • NM_004018.3:c.894AGA[1]
  • NM_004019.3:c.894AGA[1]
  • NM_004020.4:c.2718AGA[1]
  • NM_004021.3:c.2718AGA[1]
  • NM_004022.3:c.2718AGA[1]
  • NM_004023.3:c.2718AGA[1]
  • NP_000100.3:p.Glu3359del
  • NP_003997.2:p.Glu3367del
  • NP_004000.1:p.Glu3363del
  • NP_004001.1:p.Glu3244del
  • NP_004002.3:p.Glu2026del
  • NP_004003.2:p.Glu2023del
  • NP_004004.2:p.Glu907del
  • NP_004005.2:p.Glu638del
  • NP_004006.1:p.Glu299del
  • NP_004007.1:p.Glu299del
  • NP_004008.1:p.Glu299del
  • NP_004009.1:p.Glu299del
  • NP_004010.1:p.Glu299del
  • NP_004011.3:p.Glu907del
  • NP_004012.2:p.Glu907del
  • NP_004013.2:p.Glu907del
  • NP_004014.2:p.Glu907del
  • LRG_199t1:c.10101_10103del
  • LRG_199:g.2165816AGA[1]
  • NC_000023.10:g.31196906TCT[1]
  • NC_000023.10:g.31196906_31196908del
  • NM_004006.2:c.10101_10103del
  • NM_004006.2:c.10101_10103delAGA
Protein change:
E2023del
Links:
dbSNP: rs886042840
NCBI 1000 Genomes Browser:
rs886042840
Molecular consequence:
  • NM_000109.4:c.10074AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004006.3:c.10098AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004009.3:c.10086AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004010.3:c.9729AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004011.4:c.6075AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004012.4:c.6066AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004013.3:c.2718AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004014.3:c.1911AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004015.3:c.894AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004016.3:c.894AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004017.3:c.894AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004018.3:c.894AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004019.3:c.894AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004020.4:c.2718AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004021.3:c.2718AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004022.3:c.2718AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004023.3:c.2718AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000336855EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 24, 2015)
germlineclinical testing

Citation Link,

SCV001753334GeneDxcriteria provided, single submitter
Pathogenic
(Jun 4, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000336855.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV001753334.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of one amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 14961551, 30342905, 29973226, 23536893, 26284620, 21515508, 28152980)

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

Last Updated: Aug 17, 2021

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