VCV000196651.11 - ClinVar

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

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(10)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Benign/Likely benign

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

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

Variation ID: 196651 Accession: VCV000196651.11

Type and length

Duplication, 1 bp

Location

Cytogenetic: 2q31.2 2: 178535858-178535859 (GRCh38) [ NCBI UCSC ] 2: 179400586 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 28, 2015	Aug 4, 2024	Sep 10, 2021

HGVS

Nucleotide	Protein	Molecular consequence
NM_001267550.2:c.100766-10dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_001267550.2:c.100766-10dupT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_001256850.1:c.95843-10dup		intron variant
NM_003319.4:c.73571-10dup		intron variant
NM_133378.4:c.93062-10dup		intron variant
NM_133432.3:c.73946-10dup		intron variant
NM_133437.4:c.74147-10dup		intron variant
NC_000002.12:g.178535873dup
NC_000002.11:g.179400600dup
NG_011618.3:g.299944dup
NG_051363.1:g.18047dup
LRG_391:g.299944dup

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

NC_000002.12:178535858:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA202493 dbSNP: rs749872538 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TTN		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	12026	32050
TTN-AS1	-	-	-	GRCh38	-	18375

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
not specified	Likely benign (3)	criteria provided, single submitter	Dec 17, 2014	RCV000177496.7
Tibial muscular dystrophy	Benign (1)	criteria provided, single submitter	Sep 10, 2021	RCV001842791.3
Autosomal recessive limb-girdle muscular dystrophy type 2J	Benign (1)	criteria provided, single submitter	Sep 10, 2021	RCV001842792.3
Myopathy, myofibrillar, 9, with early respiratory failure	Benign (1)	criteria provided, single submitter	Sep 10, 2021	RCV001842793.3
Early-onset myopathy with fatal cardiomyopathy	Benign (1)	criteria provided, single submitter	Sep 10, 2021	RCV001842794.3
not provided	Benign (2)	criteria provided, single submitter	Aug 10, 2019	RCV001706974.3
Hypertrophic cardiomyopathy 2	not provided (1)	no classification provided	-	RCV004596099.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Benign (Aug 10, 2019)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001899369.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Likely benign (Dec 17, 2014)	criteria provided, single submitter (EGL Classification Definitions) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000229367.3 First in ClinVar: Jun 28, 2015 Last updated: Jun 28, 2015	Other databases http://geneticslab.emory.edu/emv… http://geneticslab.emory.edu/emvclass/emvclass.php?approved_symbol=TTN Number of individuals with the variant: 1 Sex: mixed
Benign (Sep 10, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Myopathy, myofibrillar, 9, with early respiratory failure Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV002100919.1 First in ClinVar: Mar 05, 2022 Last updated: Mar 05, 2022
Benign (Sep 10, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2J Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV002100907.1 First in ClinVar: Mar 05, 2022 Last updated: Mar 05, 2022
Benign (Sep 10, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Tibial muscular dystrophy Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV002100941.1 First in ClinVar: Mar 05, 2022 Last updated: Mar 05, 2022
Benign (Sep 10, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Early-onset myopathy with fatal cardiomyopathy Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV002100930.1 First in ClinVar: Mar 05, 2022 Last updated: Mar 05, 2022
Likely benign (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV002035567.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Clinical Genetics, Academic Medical Center Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001926175.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, University Medical Center Utrecht Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001926380.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
not provided (-)	no classification provided Method: clinical testing	Hypertrophic cardiomyopathy 2 Affected status: yes Allele origin: unknown	Institute of Human Genetics, University of Wuerzburg Accession: SCV005088654.1 First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024	Number of individuals with the variant: 1

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs749872538 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 04, 2024

ClinVar Genomic variation as it relates to human health

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

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs749872538 ...