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NM_000363.4(TNNI3):c.-148A>G

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 1, 2021)
Last evaluated:
Jul 11, 2018
Accession:
VCV000369294.4
Variation ID:
369294
Description:
single nucleotide variant
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NM_000363.4(TNNI3):c.-148A>G

Allele ID
353523
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55157737 (GRCh38) GRCh38 UCSC
19: 55669105 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432:g.4996A>G
NC_000019.10:g.55157737T>C
NC_000019.9:g.55669105T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:55157736:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00459 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00192
1000 Genomes Project 0.00459
Trans-Omics for Precision Medicine (TOPMed) 0.00636
The Genome Aggregation Database (gnomAD) 0.00661
Exome Aggregation Consortium (ExAC) 0.00277
Links
ClinGen: CA9667723
dbSNP: rs73935313
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 Jun 14, 2016 RCV000275714.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000312062.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000366876.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000370411.2
Likely benign 1 criteria provided, single submitter Jul 11, 2018 RCV001580490.3
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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 benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hypertrophic Cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483806.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Restrictive Cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483803.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483804.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated Cardiomyopathy, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483805.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jul 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001817720.1
Submitted: (Sep 01, 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 rs73935313...

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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 29, 2021