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NM_000363.5(TNNI3):c.99_100dup (p.His34fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2019
Accession:
VCV000933805.2
Variation ID:
933805
Description:
2bp duplication
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NM_000363.5(TNNI3):c.99_100dup (p.His34fs)

Allele ID
938859
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
19q13.42
Genomic location
19: 55157057-55157058 (GRCh38) GRCh38 UCSC
19: 55668425-55668426 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55157059_55157060dup
NC_000019.9:g.55668427_55668428dup
NG_007866.2:g.5674_5675dup
... more HGVS
Protein change
H34fs
Other names
-
Canonical SPDI
NC_000019.10:55157057:GCG:GCGCG
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 Sep 23, 2019 RCV001202093.1
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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
(Sep 23, 2019)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001373192.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.His34Argfs*17) in the TNNI3 gene. It is expected to result in an absent or disrupted protein … (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