NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 1, 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:: RCV000128684.17

Allele description

NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)

Gene:

TPM2:tropomyosin 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)

HGVS:

NC_000009.12:g.35685509CTC[1]
NG_011620.1:g.9544GAG[1]
NM_001301226.2:c.412GAG[1]
NM_001301227.2:c.412GAG[1]
NM_003289.4:c.412GAG[1]MANE SELECT
NM_213674.1:c.412GAG[1]
NP_001288155.1:p.Glu139del
NP_001288156.1:p.Glu139del
NP_003280.2:p.Glu139del
NP_998839.1:p.Glu139del
LRG_680t1:c.412GAG[1]
LRG_680:g.9544GAG[1]
LRG_680p1:p.Glu139del
NC_000009.11:g.35685506CTC[1]
NC_000009.11:g.35685506_35685508del
NM_003289.3:c.415_417delGAG
NM_003289.4:c.415_417delMANE SELECT
p.(Glu139del)

Protein change:

E139del

Links:

OMIM: 190990.0006; dbSNP: rs199476153

NCBI 1000 Genomes Browser:

rs199476153

Molecular consequence:

NM_001301226.2:c.412GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001301227.2:c.412GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003289.4:c.412GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_213674.1:c.412GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172324	TPM2 homepage - Leiden Muscular Dystrophy pages	no classification provided	not provided	de novo, germline	not provided	PubMed (2) [See all records that cite these PMIDs] 17434307, 19345583
SCV003917658	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Feb 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000172324

TPM2 homepage - Leiden Muscular Dystrophy pages

no classification provided

not provided

de novo, germline

not provided

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

SCV003917658

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Feb 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2007 Jun;17(6):433-42. Epub 2007 Apr 16.

PubMed [citation]

PMID:: 17434307

Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN.

Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3.

PubMed [citation]

PMID:: 19345583

Details of each submission

From TPM2 homepage - Leiden Muscular Dystrophy pages, SCV000172324.1

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

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

From CeGaT Center for Human Genetics Tuebingen, SCV003917658.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

TPM2: PS2, PM2, PS3:Moderate, PS4:Moderate

#	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		1	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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