NM_001267550.2(TTN):c.40408+7_40408+10dup AND not provided

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Oct 19, 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:: RCV001529184.5

Allele description [Variation Report for NM_001267550.2(TTN):c.40408+7_40408+10dup]

NM_001267550.2(TTN):c.40408+7_40408+10dup

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.40408+7_40408+10dup

HGVS:

NC_000002.12:g.178645910_178645913dup
NG_011618.3:g.189890_189893dup
NM_001256850.1:c.35485+7_35485+10dup
NM_001267550.2:c.40408+7_40408+10dupMANE SELECT
NM_003319.4:c.13283-3596_13283-3593dup
NM_133378.4:c.32704+7_32704+10dup
NM_133432.3:c.13658-3596_13658-3593dup
NM_133437.4:c.13859-3596_13859-3593dup
LRG_391:g.189890_189893dup
NC_000002.11:g.179510636_179510637insCATT
NC_000002.11:g.179510637_179510640dup
NM_133378.4:c.32704+7_32704+10dupAATG
c.32704+7_32704+10dupAATG

Links:

dbSNP: rs397517560

NCBI 1000 Genomes Browser:

rs397517560

Molecular consequence:

NM_001267550.2:c.40408+7_40408+10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.13283-3596_13283-3593dup - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.32704+7_32704+10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13658-3596_13658-3593dup - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13859-3596_13859-3593dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001742220	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001756561	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Oct 19, 2016)	germline	clinical testing	Citation Link,
SCV001964522	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001742220

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001756561

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Oct 19, 2016)

germline

clinical testing

Citation Link,

SCV001964522

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742220.3

#	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 GeneDx, SCV001756561.1

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

Description

This variant is associated with the following publications: (PMID: 24503780)

#	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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001964522.1

#	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: Apr 13, 2025

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