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NM_000363.5(TNNI3):c.146dup (p.Lys50fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 19, 2020)
Last evaluated:
Dec 18, 2018
Accession:
VCV000927030.1
Variation ID:
927030
Description:
1bp duplication
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NM_000363.5(TNNI3):c.146dup (p.Lys50fs)

Allele ID
914898
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55156606-55156607 (GRCh38) GRCh38 UCSC
19: 55667974-55667975 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432:g.6126dup
LRG_432t1:c.146dup
NC_000019.10:g.55156607dup
... more HGVS
Protein change
K50fs
Other names
-
Canonical SPDI
NC_000019.10:55156606:A:AA
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 Dec 18, 2018 RCV001190032.1
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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
(Dec 18, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001357443.1
Submitted: (May 19, 2020)
Comment:
Variant of Uncertain Significance due to insufficient evidence: This variant inserts 1 nucleotide in exon 4 of the TNNI3 gene, creating a frameshift and premature … (more)
Evidence details

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