NM_001267550.2(TTN):c.100766-10dup AND not specified

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Dec 17, 2014
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:: RCV000177496.7

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

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

Genes:

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

Variant type:

Duplication

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

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

HGVS:

NC_000002.12:g.178535873dup
NG_011618.3:g.299944dup
NG_051363.1:g.18047dup
NM_001256850.1:c.95843-10dup
NM_001267550.2:c.100766-10dupMANE SELECT
NM_003319.4:c.73571-10dup
NM_133378.4:c.93062-10dup
NM_133432.3:c.73946-10dup
NM_133437.4:c.74147-10dup
LRG_391:g.299944dup
NC_000002.11:g.179400600dup
NC_000002.12:g.178535858_178535859insA
NM_001267550.2:c.100766-10dupTMANE SELECT

Links:

dbSNP: rs749872538

NCBI 1000 Genomes Browser:

rs749872538

Molecular consequence:

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

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000229367	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Likely benign (Dec 17, 2014)	germline	clinical testing	Citation Link,
SCV001926175	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001926380	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000229367

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Likely benign
(Dec 17, 2014)

germline

clinical testing

Citation Link,

SCV001926175

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

SCV001926380

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000229367.3

#	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	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001926175.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926380.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

ClinVar

Relating variation to medicine