NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) AND Congenital myopathy 4B, autosomal recessive

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 1, 2008
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:: RCV000013262.39

Allele description [Variation Report for NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)]

NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)

Gene:

TPM3:tropomyosin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)

HGVS:

NC_000001.11:g.154191925G>A
NG_008621.1:g.5209C>T
NM_001364679.2:c.94C>T
NM_001364680.2:c.94C>T
NM_001364681.2:c.94C>T
NM_001364682.1:c.94C>T
NM_152263.4:c.94C>TMANE SELECT
NP_001351608.1:p.Gln32Ter
NP_001351609.1:p.Gln32Ter
NP_001351610.1:p.Gln32Ter
NP_001351611.1:p.Gln32Ter
NP_689476.2:p.Gln32Ter
NP_689476.2:p.Gln32Ter
LRG_681t2:c.94C>T
LRG_681:g.5209C>T
LRG_681p2:p.Gln32Ter
NC_000001.10:g.154164401G>A
NM_152263.2:c.94C>T
NR_103460.2:n.176C>T
p.(Gln32*)

Protein change:

Q32*; GLN32TER

Links:

OMIM: 191030.0004; dbSNP: rs80358248

NCBI 1000 Genomes Browser:

rs80358248

Molecular consequence:

NR_103460.2:n.176C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001364679.2:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001364680.2:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001364681.2:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001364682.1:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_152263.4:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Congenital myopathy 4B, autosomal recessive
Synonyms:: Nemaline myopathy caused by mutation in the tropomyosin 3 gene; Nemaline myopathy 1, autosomal dominant or recessive
Identifiers:: MONDO: MONDO:0012239; MedGen: C5829889; Orphanet: 171433; Orphanet: 171439; Orphanet: 171881; OMIM: 609284

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033509	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2008)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10619715, 18300303
SCV000041594	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033509

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2008)

germline

literature only

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

SCV000041594

GeneReviews

no classification provided

not provided

germline

literature only

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

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN.

Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308.

PubMed [citation]

PMID:: 18300303

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.

Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG.

Neuromuscul Disord. 1999 Dec;9(8):573-9.

PubMed [citation]

PMID:: 10619715

Details of each submission

From OMIM, SCV000033509.4

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

Description

In an Iranian patient, born of consanguineous parents, with congenital myopathy-4B (CMYO4B; 609284), Tan et al. (1999) identified a homozygous C-to-T transition in exon 1 of the TPM3 gene, resulting in a GLN31TER substitution. Based on numbering from the first met codon (Clarke et al. (2008)), this mutation is designated GLN32TER (Q32X). Although no neonatal problems were reported, the infant showed extremely delayed motor development and died at age 21 months due to respiratory insufficiency resulting from an infectious illness. Muscle biopsy showed type 1 fiber hypotrophy and atrophy, with a mild predominance of type 2 fibers. Nemaline bodies were present in type 1 fibers only.

#	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 GeneReviews, SCV000041594.5

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

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

Last Updated: Nov 3, 2024

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