NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 19, 2015
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:: RCV000201054.2

Allele description [Variation Report for NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)]

NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)

HGVS:

NC_000001.11:g.156134860G>A
NG_008692.2:g.57288G>A
NM_001257374.3:c.359G>A
NM_001282624.2:c.452G>A
NM_001282625.2:c.695G>A
NM_001282626.2:c.695G>A
NM_005572.4:c.695G>A
NM_170707.4:c.695G>AMANE SELECT
NM_170708.4:c.695G>A
NP_001244303.1:p.Gly120Glu
NP_001269553.1:p.Gly151Glu
NP_001269554.1:p.Gly232Glu
NP_001269555.1:p.Gly232Glu
NP_005563.1:p.Gly232Glu
NP_733821.1:p.Gly232Glu
NP_733822.1:p.Gly232Glu
LRG_254t2:c.695G>A
LRG_254:g.57288G>A
NC_000001.10:g.156104651G>A
NM_170707.2:c.695G>A
NM_170707.3:c.695G>A
P02545:p.Gly232Glu

Protein change:

G120E

Links:

UniProtKB: P02545#VAR_039771; dbSNP: rs57207746

NCBI 1000 Genomes Browser:

rs57207746

Molecular consequence:

NM_001257374.3:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.452G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255786	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Jun 19, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10939567, 16772334, 20498703, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000255786

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Jun 19, 2015)

germline

clinical testing

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, et al.

Ann Neurol. 2000 Aug;48(2):170-80.

PubMed [citation]

PMID:: 10939567

Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci.

Manju K, Muralikrishna B, Parnaik VK.

J Cell Sci. 2006 Jul 1;119(Pt 13):2704-14. Epub 2006 Jun 13.

PubMed [citation]

PMID:: 16772334

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000255786.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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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