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NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 1, 1997
Accession:
VCV000012420.1
Variation ID:
12420
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)

Allele ID
27459
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151851 (GRCh38) GRCh38 UCSC
19: 55663219 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P19429:p.Lys206Gln
NC_000019.10:g.55151851T>G
NC_000019.9:g.55663219T>G
... more HGVS
Protein change
K206Q
Other names
-
Canonical SPDI
NC_000019.10:55151850:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA022072
UniProtKB: P19429#VAR_007604
OMIM: 191044.0002
dbSNP: rs104894725
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 1, 1997 RCV000013232.23
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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
Pathogenic
(Aug 01, 1997)
no assertion criteria provided
Method: literature only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
Allele origin: germline
OMIM
Accession: SCV000033479.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Kimura A Nature genetics 1997 PMID: 9241277

Text-mined citations for rs104894725...

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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 Feb 19, 2021