Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000363.5(TNNI3):c.108+4G>T

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 10, 2016)
Last evaluated:
Jan 1, 2016
Accession:
VCV000237688.1
Variation ID:
237688
Description:
single nucleotide variant
Help

NM_000363.5(TNNI3):c.108+4G>T

Allele ID
243552
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55157046 (GRCh38) GRCh38 UCSC
19: 55668414 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432t1:c.108+4G>T
NC_000019.10:g.55157046C>A
NC_000019.9:g.55668414C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:55157045:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA10583866
dbSNP: rs878853954
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 1, 2016 RCV000229820.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNNI3 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
438 493

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000284650.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change falls in intron 3 of the TNNI3 mRNA. It does not directly change the encoded amino acid sequence of the TNNI3 protein. … (more)

Functional evidence

Help
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 this variant

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

Text-mined citations for rs878853954...

Help
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 Oct 08, 2021