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NM_000363.5(TNNI3):c.563_569del (p.Val188fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 1, 2020
Accession:
VCV001004884.1
Variation ID:
1004884
Description:
7bp deletion
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NM_000363.5(TNNI3):c.563_569del (p.Val188fs)

Allele ID
998812
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151898-55151904 (GRCh38) GRCh38 UCSC
19: 55663266-55663272 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55151898_55151904del
NC_000019.9:g.55663266_55663272del
NG_007866.2:g.10829_10835del
... more HGVS
Protein change
V188fs
Other names
-
Canonical SPDI
NC_000019.10:55151897:TCTCCCA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 1, 2020 RCV001301660.1
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 01, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001490837.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the TNNI3 gene (p.Val188Alafs*9). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

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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

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

Record last updated Oct 08, 2021