VCV003363002.1 - ClinVar

NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Likely pathogenic

This classification is based on the single submission received

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.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)

Variation ID: 3363002 Accession: VCV003363002.1

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 2q31.2 2: 178557799 (GRCh38) [ NCBI UCSC ] 2: 179422526 (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	Oct 20, 2024	Oct 20, 2024	Jan 6, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_001267550.2:c.87555G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001254479.2:p.Trp29185Ter	nonsense
NM_001256850.1:c.82632G>A	NP_001243779.1:p.Trp27544Ter	nonsense
NM_003319.4:c.60360G>A	NP_003310.4:p.Trp20120Ter	nonsense
NM_133378.4:c.79851G>A	NP_596869.4:p.Trp26617Ter	nonsense
NM_133432.3:c.60735G>A	NP_597676.3:p.Trp20245Ter	nonsense
NM_133437.4:c.60936G>A	NP_597681.4:p.Trp20312Ter	nonsense
NC_000002.12:g.178557799C>T
NC_000002.11:g.179422526C>T
NG_011618.3:g.278004G>A
NG_051363.1:g.39973C>T
LRG_391:g.278004G>A
LRG_391t1:c.87555G>A	LRG_391p1:p.Trp29185Ter

... more HGVS ... less HGVS

Protein change

W20120*, W20245*, W20312*, W26617*, W27544*, W29185*

Other names

Canonical SPDI

NC_000002.12:178557798:C:T

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

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	13826	37026
TTN-AS1	-	-	-	GRCh38	-	21315

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.
Dilated cardiomyopathy 1G	Likely pathogenic (1)	no assertion criteria provided	Jan 6, 2024	RCV004765203.1

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.	Expand all rows Collapse all rows 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.
Likely pathogenic (Jan 06, 2024) C Contributing to aggregate classification	no assertion criteria provided	Dilated cardiomyopathy 1G	Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere Accession: SCV005375042.1 First in ClinVar: Oct 20, 2024 Last updated: Oct 20, 2024	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Age: 18-80 years

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 this variant ...

Record last updated Oct 27, 2024

ClinVar Genomic variation as it relates to human health

NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Citations for germline classification of this variant

Text-mined citations for this variant ...