NM_004006.3(DMD):c.10097_10099del (p.Gly3366del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 23, 2023
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:: RCV003488615.2

Allele description [Variation Report for NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)]

NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)

HGVS:

NC_000023.10:g.31196910_31196912del
NC_000023.11:g.31178795_31178797del
NG_012232.1:g.2165815_2165817del
NM_000109.4:c.10073_10075del
NM_004006.3:c.10097_10099delMANE SELECT
NM_004009.3:c.10085_10087del
NM_004010.3:c.9728_9730del
NM_004011.4:c.6074_6076del
NM_004012.4:c.6065_6067del
NM_004013.3:c.2717_2719del
NM_004014.3:c.1910_1912del
NM_004015.3:c.893_895del
NM_004016.3:c.893_895del
NM_004017.3:c.893_895del
NM_004018.3:c.893_895del
NM_004019.3:c.893_895del
NM_004020.4:c.2717_2719del
NM_004021.3:c.2717_2719del
NM_004022.3:c.2717_2719del
NM_004023.3:c.2717_2719del
NP_000100.3:p.Gly3358del
NP_003997.2:p.Gly3366del
NP_004000.1:p.Gly3362del
NP_004001.1:p.Gly3243del
NP_004002.3:p.Gly2025del
NP_004003.2:p.Gly2022del
NP_004004.2:p.Gly906del
NP_004005.2:p.Gly637del
NP_004006.1:p.Gly298del
NP_004007.1:p.Gly298del
NP_004008.1:p.Gly298del
NP_004009.1:p.Gly298del
NP_004010.1:p.Gly298del
NP_004011.3:p.Gly906del
NP_004012.2:p.Gly906del
NP_004013.2:p.Gly906del
NP_004014.2:p.Gly906del
LRG_199:g.2165815_2165817del
NC_000023.10:g.31196910_31196912del
NC_000023.10:g.31196910_31196912delCTC
NC_000023.10:g.31196912_31196914del
NM_004006.2:c.10097_10099delGAG

Protein change:

G2022del

Links:

dbSNP: rs1060502613

NCBI 1000 Genomes Browser:

rs1060502613

Molecular consequence:

NM_000109.4:c.10073_10075del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004006.3:c.10097_10099del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004009.3:c.10085_10087del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004010.3:c.9728_9730del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004011.4:c.6074_6076del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004012.4:c.6065_6067del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004013.3:c.2717_2719del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004014.3:c.1910_1912del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004015.3:c.893_895del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004016.3:c.893_895del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004017.3:c.893_895del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004018.3:c.893_895del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004019.3:c.893_895del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004020.4:c.2717_2719del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004021.3:c.2717_2719del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004022.3:c.2717_2719del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004023.3:c.2717_2719del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004238156	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 23, 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

SCV004238156

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 23, 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	unknown	not provided	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 Revvity Omics, Revvity, SCV004238156.1

#	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: Sep 29, 2024

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