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NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 23, 2017
Accession:
VCV000181602.2
Variation ID:
181602
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys)

Allele ID
179837
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151885 (GRCh38) GRCh38 UCSC
19: 55663253 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.55663253G>C
NC_000019.10:g.55151885G>C
NM_000363.5:c.582C>G MANE Select NP_000354.4:p.Asn194Lys missense
... more HGVS
Protein change
N194K
Other names
p.N194K:AAC>AAG
Canonical SPDI
NC_000019.10:55151884:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA022000
dbSNP: rs730881090
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 23, 2017 RCV000159261.3
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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
Likely pathogenic
(Jun 23, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209207.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Asn194Lys variant in the TNNI3 gene has not been reported previously as pathogenic or as a benign polymorphism, to our knowledge. Asn194Lys results in … (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.

Text-mined citations for rs730881090...

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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 27, 2021