NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) AND Tibial muscular dystrophy

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 23, 2012
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:: RCV000031997.2

Allele description

NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)

HGVS:

NC_000002.12:g.178527091_178527096del
NG_011618.3:g.308707_308712del
NG_051363.1:g.9265_9270del
NM_001256850.1:c.102969_102974del
NM_001267550.2:c.107892_107897delMANE SELECT
NM_003319.4:c.80697_80702del
NM_133378.4:c.100188_100193del
NM_133432.3:c.81072_81077del
NM_133437.4:c.81273_81278del
NP_001243779.1:p.Gln34323_Gly34325delinsHis
NP_001254479.2:p.Gln35964_Gly35966delinsHis
NP_003310.4:p.Gln26899_Gly26901delinsHis
NP_596869.4:p.Gln33396_Gly33398delinsHis
NP_597676.3:p.Gln27024_Gly27026delinsHis
NP_597681.4:p.Gln27091_Gly27093delinsHis
LRG_391:g.308707_308712del
NC_000002.11:g.179391818_179391823del
NM_133378.4:c.100188_100193delAGATGG

Nucleotide change:

AJ277892.2:g.293381_293386delAGATGG

Links:

dbSNP: rs281864933

NCBI 1000 Genomes Browser:

rs281864933

Molecular consequence:

NM_001256850.1:c.102969_102974del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001267550.2:c.107892_107897del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_003319.4:c.80697_80702del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_133378.4:c.100188_100193del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_133432.3:c.81072_81077del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_133437.4:c.81273_81278del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Tibial muscular dystrophy (TMD)
Synonyms:: Distal myopathy Markesbery-Griggs type; UDD Myopathy; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000054701	GeneReviews	no assertion criteria provided	pathologic (Aug 23, 2012)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000054701

GeneReviews

no assertion criteria provided

pathologic
(Aug 23, 2012)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From GeneReviews, SCV000054701.2

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Jun 15, 2021

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