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NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 22, 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:
RCV000015588.29

Allele description [Variation Report for NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)]

NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)
HGVS:
  • NC_000001.11:g.156134510GAA[1]
  • NG_008692.2:g.56938GAA[1]
  • NM_001257374.3:c.285GAA[1]
  • NM_001282624.2:c.378GAA[1]
  • NM_001282625.2:c.621GAA[1]
  • NM_001282626.2:c.621GAA[1]
  • NM_005572.4:c.621GAA[1]
  • NM_170707.4:c.621GAA[1]MANE SELECT
  • NM_170708.4:c.621GAA[1]
  • NP_001244303.1:p.Lys96del
  • NP_001269553.1:p.Lys127del
  • NP_001269554.1:p.Lys208del
  • NP_001269555.1:p.Lys208del
  • NP_005563.1:p.Lys208del
  • NP_733821.1:p.Lys208del
  • NP_733822.1:p.Lys208del
  • LRG_254t2:c.624_626del
  • LRG_254:g.56938GAA[1]
  • NC_000001.10:g.156104301GAA[1]
  • NM_170707.2:c.624_626delGAA
Protein change:
K127del
Links:
OMIM: 150330.0018; dbSNP: rs267607540
NCBI 1000 Genomes Browser:
rs267607540
Molecular consequence:
  • NM_001257374.3:c.285GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282624.2:c.378GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282625.2:c.621GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282626.2:c.621GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_005572.4:c.621GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_170707.4:c.621GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_170708.4:c.621GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Synonyms:
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021569; MedGen: C0410190; Orphanet: 261; Orphanet: 264; OMIM: 181350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035853OMIM
no assertion criteria provided
Pathogenic
(May 22, 2000) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B; LGMD workshop study group..

Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. No abstract available.

PubMed [citation]
PMID:
30055862

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K.

Hum Mol Genet. 2000 May 22;9(9):1453-9.

PubMed [citation]
PMID:
10814726
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000035853.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In a family (family A) diagnosed with limb-girdle muscular dystrophy type 1B (LGMD1B), which was reclassified as Emery-Dreifuss muscular dystrophy-2 (EDMD2; 181350) by Straub et al. (2018), Muchir et al. (2000) found a 3-bp deletion (AAG) in exon 3 of the LMNA gene, resulting in loss of the codon for lysine-208 (delK208). This family was previously reported by van der Kooi et al. (1996, 1997).

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

Last Updated: Mar 16, 2024