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

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Jan 24, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000725426.10

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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000336855	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 24, 2015)	germline	clinical testing	Citation Link,
SCV001753334	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 4, 2019)	germline	clinical testing	Citation Link,
SCV003831023	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 24, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000336855

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Nov 24, 2015)

germline

clinical testing

Citation Link,

SCV001753334

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 4, 2019)

germline

clinical testing

Citation Link,

SCV003831023

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 24, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000336855.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV001753334.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003831023.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

ClinVar

Relating variation to medicine