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

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV004596164.1

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]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy 2
Synonyms:: Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:: MONDO: MONDO:0007266; MedGen: C1861864; OMIM: 115195

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005088655	Institute of Human Genetics, University of Wuerzburg	no classification provided	not provided	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005088655

Institute of Human Genetics, University of Wuerzburg

no classification provided

not provided

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV005088655.1

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

Last Updated: Aug 4, 2024

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