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NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 8, 2022
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:
RCV002281642.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)]

NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)
HGVS:
  • NC_000001.11:g.156136111GAG[2]
  • NG_008692.2:g.58539GAG[2]
  • NM_001257374.3:c.811GAG[2]
  • NM_001282624.2:c.904GAG[2]
  • NM_001282625.2:c.1147GAG[2]
  • NM_001282626.2:c.1147GAG[2]
  • NM_005572.4:c.1147GAG[2]
  • NM_170707.4:c.1147GAG[2]MANE SELECT
  • NM_170708.4:c.1147GAG[2]
  • NP_001244303.1:p.Glu273del
  • NP_001269553.1:p.Glu304del
  • NP_001269554.1:p.Glu385del
  • NP_001269555.1:p.Glu385del
  • NP_005563.1:p.Glu385del
  • NP_733821.1:p.Glu385del
  • NP_733822.1:p.Glu385del
  • LRG_254:g.58539GAG[2]
  • NC_000001.10:g.156105902GAG[2]
  • NM_170707.3:c.1153_1155del
  • NM_170707.4:c.1153_1155delGAGMANE SELECT
Protein change:
E273del
Links:
dbSNP: rs1553265761
NCBI 1000 Genomes Browser:
rs1553265761
Molecular consequence:
  • NM_001257374.3:c.811GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282624.2:c.904GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282625.2:c.1147GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282626.2:c.1147GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_005572.4:c.1147GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_170707.4:c.1147GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_170708.4:c.1147GAG[2] - 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
SCV002546553Center of Excellence for Medical Genomics, Chulalongkorn University
no assertion criteria provided

(ACMG Guidelines, 2015)		Pathogenic
(Sep 8, 2022) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Center of Excellence for Medical Genomics, Chulalongkorn University, SCV002546553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024