NM_003673.4(TCAP):c.110_110+1del AND Autosomal recessive limb-girdle muscular dystrophy type 2G

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2000
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:: RCV000005862.4

Allele description [Variation Report for NM_003673.4(TCAP):c.110_110+1del]

NM_003673.4(TCAP):c.110_110+1del

Gene:

TCAP:titin-cap [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_003673.4(TCAP):c.110_110+1del

HGVS:

NC_000017.11:g.39665469_39665470del
NG_008892.1:g.5124_5125del
NG_042278.1:g.2489_2490del
NM_003673.4:c.110_110+1delMANE SELECT
LRG_210t1:c.110_110+1del
LRG_210:g.5124_5125del
NC_000017.10:g.37821720_37821721del
NC_000017.10:g.37821722_37821723del
NM_003673.3:c.109_110del
NM_003673.3:c.110_110+1delGG

Note:

NCBI staff reviewed the sequence information reported in PubMed 10655062 Fig. 4 to determine the location of this allele on the current reference sequence.

Links:

OMIM: 604488.0002; dbSNP: rs786205076

NCBI 1000 Genomes Browser:

rs786205076

Molecular consequence:

NM_003673.4:c.110_110+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMDR7)
Synonyms:: Limb-girdle muscular dystrophy, type 2G; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; Telethoninopathy
Identifiers:: MONDO: MONDO:0011170; MedGen: C1866008; Orphanet: 34514; OMIM: 601954

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026044	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2000)	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

SCV000026044

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2000)

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

Citations

PubMed

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE.

Nat Genet. 2000 Feb;24(2):163-6.

PubMed [citation]

PMID:: 10655062

Details of each submission

From OMIM, SCV000026044.3

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

Description

In a family with limb-girdle muscular dystrophy type 2G (LGMDR7; 601954), Moreira et al. (2000) found that affected members were compound heterozygotes for the Q53X mutation (604488.0001) and a deletion of 2 guanine nucleotides within a 4 guanine run (nucleotides 637-640 in the genomic sequence) at the junction of exon 1 and intron 1.

#	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

Last Updated: May 1, 2024

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