NM_000117.3(EMD):c.130C>T (p.Gln44Ter) AND X-linked Emery-Dreifuss muscular dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 15, 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:: RCV000011926.6

Allele description [Variation Report for NM_000117.3(EMD):c.130C>T (p.Gln44Ter)]

NM_000117.3(EMD):c.130C>T (p.Gln44Ter)

Gene:

EMD:emerin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000117.3(EMD):c.130C>T (p.Gln44Ter)

Other names:

Q43*; NP_000108.1:p.Gln44*

HGVS:

NC_000023.11:g.154379737C>T
NG_008677.1:g.10302C>T
NM_000117.3:c.130C>TMANE SELECT
NP_000108.1:p.Gln44Ter
NP_000108.1:p.Gln44Ter
LRG_745t1:c.130C>T
LRG_745:g.10302C>T
LRG_745p1:p.Gln44Ter
NC_000023.10:g.153608097C>T
NM_000117.2:c.130C>T

Protein change:

Q44*; GLN43TER

Links:

OMIM: 300384.0006; dbSNP: rs132630262

NCBI 1000 Genomes Browser:

rs132630262

Molecular consequence:

NM_000117.3:c.130C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: X-linked Emery-Dreifuss muscular dystrophy
Synonyms:: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
Identifiers:: MONDO: MONDO:0010680; MedGen: C0751337; Orphanet: 261; Orphanet: 98863

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032159	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV003445291	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 15, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24365856, 8595406, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032159

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1995)

germline

literature only

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

SCV003445291

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 15, 2023)

germline

clinical testing

PubMed (3)
[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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Emerin in health and disease.

Koch AJ, Holaska JM.

Semin Cell Dev Biol. 2014 May;29:95-106. doi: 10.1016/j.semcdb.2013.12.008. Epub 2013 Dec 21. Review.

PubMed [citation]

PMID:: 24365856
PMCID:: PMC4384519

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.

Klauck SM, Wilgenbus P, Yates JR, Müller CR, Poustka A.

Hum Mol Genet. 1995 Oct;4(10):1853-7. No abstract available.

PubMed [citation]

PMID:: 8595406

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000032159.2

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

Description

Klauck et al. (1995) identified novel mutations in 3 families with Emery-Dreifuss muscular dystrophy (310300). One of these was a C-to-T transition at nucleotide 188, resulting in a change of codon 43 from CAG (gln) to a stop codon.

#	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

From Invitae, SCV003445291.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln44*) in the EMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 8595406). This variant is also known as 188C>T. ClinVar contains an entry for this variant (Variation ID: 11176). For these reasons, this variant has been classified as Pathogenic.

#	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: May 1, 2024

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