NM_001267550.2(TTN):c.100766-10del AND Early-onset myopathy with fatal cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000293928.5

Allele description [Variation Report for NM_001267550.2(TTN):c.100766-10del]

NM_001267550.2(TTN):c.100766-10del

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.100766-10del

HGVS:

NC_000002.12:g.178535873del
NG_011618.3:g.299944del
NG_051363.1:g.18047del
NM_001256850.1:c.95843-10del
NM_001267550.2:c.100766-10delMANE SELECT
NM_003319.4:c.73571-10del
NM_133378.4:c.93062-10del
NM_133432.3:c.73946-10del
NM_133437.4:c.74147-10del
LRG_391:g.299944del
NC_000002.11:g.179400600del
NC_000002.12:g.178535859delA
NM_133378.4:c.93062-10delT

Links:

dbSNP: rs749872538

NCBI 1000 Genomes Browser:

rs749872538

Molecular consequence:

NM_001256850.1:c.95843-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.100766-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.73571-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.93062-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.73946-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.74147-10del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Early-onset myopathy with fatal cardiomyopathy (CMYO5)
Synonyms:: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Identifiers:: MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000420261	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000420261

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000420261.2

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

#	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: Aug 4, 2024

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