NM_002294.3(LAMP2):c.14del (p.Arg5fs) AND Danon disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 24, 2000
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000010659.7

Allele description [Variation Report for NM_002294.3(LAMP2):c.14del (p.Arg5fs)]

NM_002294.3(LAMP2):c.14del (p.Arg5fs)

Gene:

LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq24

Genomic location:

Preferred name:

NM_002294.3(LAMP2):c.14del (p.Arg5fs)

HGVS:

NC_000023.11:g.120469156del
NG_007995.1:g.5194del
NM_001122606.1:c.14del
NM_002294.3:c.14delMANE SELECT
NM_013995.2:c.14del
NP_001116078.1:p.Arg5fs
NP_002285.1:p.Arg5fs
NP_054701.1:p.Arg5fs
LRG_749t1:c.14del
LRG_749t2:c.14del
LRG_749t3:c.14del
LRG_749:g.5194del
LRG_749p2:p.Arg5fs
LRG_749p3:p.Arg5fs
NC_000023.10:g.119603011del
NM_002294.2:c.14delG

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

R5fs

Links:

OMIM: 309060.0006; dbSNP: rs1183994410

NCBI 1000 Genomes Browser:

rs1183994410

Molecular consequence:

NM_001122606.1:c.14del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002294.3:c.14del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013995.2:c.14del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Danon disease
Synonyms:: PSEUDOGLYCOGENOSIS II; GSD IIb; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010281; MedGen: C0878677; Orphanet: 34587; OMIM: 300257

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030885	OMIM	no assertion criteria provided	Pathogenic (Aug 24, 2000)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3087571, 10972294

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030885

OMIM

no assertion criteria provided

Pathogenic
(Aug 24, 2000)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.

Byrne E, Dennett X, Crotty B, Trounce I, Sands JM, Hawkins R, Hammond J, Anderson S, Haan EA, Pollard A.

Brain. 1986 Jun;109 ( Pt 3):523-36.

PubMed [citation]

PMID:: 3087571

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.

Nature. 2000 Aug 24;406(6798):906-10.

PubMed [citation]

PMID:: 10972294

Details of each submission

From OMIM, SCV000030885.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a male patient (patient 9) from a large Greek family with Danon disease (300257) initially reported by Byrne et al. (1986), Nishino et al. (2000) identified a 1-bp deletion (14delG) in exon 1 of the LAMP2 gene, resulting in a frameshift.

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

Last Updated: Mar 11, 2023

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