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NM_000363.5(TNNI3):c.363C>T (p.Asn121=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 20, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000513975.4
Variation ID:
513975
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.363C>T (p.Asn121=)

Allele ID
507576
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154750 (GRCh38) GRCh38 UCSC
19: 55666118 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432:g.7983C>T
LRG_432t1:c.363C>T
NC_000019.10:g.55154750G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:55154749:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00019
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA051341
dbSNP: rs371490136
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 27, 2019 RCV000610390.3
Likely benign 1 criteria provided, single submitter Nov 24, 2020 RCV001504260.1
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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
Likely benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001709134.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 27, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000725550.2
Submitted: (Jul 20, 2021)
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.

Text-mined citations for rs371490136...

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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 Sep 23, 2021