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NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 1, 2005
Accession:
VCV000012434.1
Variation ID:
12434
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)

Allele ID
27473
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55157097 (GRCh38) GRCh38 UCSC
19: 55668465 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55157097G>A
NC_000019.9:g.55668465G>A
NM_000363.5:c.61C>T MANE Select NP_000354.4:p.Arg21Cys missense
... more HGVS
Protein change
R21C
Other names
-
Canonical SPDI
NC_000019.10:55157096:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA022092
OMIM: 191044.0016
dbSNP: rs267607128
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 Nov 1, 2005 RCV000013247.16
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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
(Nov 01, 2005)
no assertion criteria provided
Method: literature only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
Allele origin: germline
OMIM
Accession: SCV000033494.1
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
Gene mutations in apical hypertrophic cardiomyopathy. Arad M Circulation 2005 PMID: 16267253

Text-mined citations for rs267607128...

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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