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NM_003283.6(TNNT1):c.792-114C>T

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 12, 2019)
Last evaluated:
Jun 18, 2018
Accession:
VCV000031858.3
Variation ID:
31858
Description:
single nucleotide variant
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NM_003283.6(TNNT1):c.792-114C>T

Allele ID
40518
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55133074 (GRCh38) GRCh38 UCSC
19: 55644442 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55133074G>A
NC_000019.9:g.55644442G>A
NG_011829.2:g.21165C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:55133073:G:A
Functional consequence
unknown functional consequence
Global minor allele frequency (GMAF)
0.28235 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.22099
The Genome Aggregation Database (gnomAD) 0.22589
1000 Genomes Project 0.28235
The Genome Aggregation Database (gnomAD) 0.22262
Trans-Omics for Precision Medicine (TOPMed) 0.22328
Links
ClinGen: CA215416
Leiden Muscular Dystrophy (TNNT1): TNNT1_00005
dbSNP: rs891186
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Jun 18, 2018 RCV000024553.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNNT1 - - GRCh38
GRCh37
189 223

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Jun 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000971102.1
Submitted: (Apr 12, 2019)
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
not provided
(Mar 18, 2012)
no assertion provided
Method: curation
not specified
Affected status: not provided
Allele origin: germline
Leiden Muscular Dystrophy (TNNT1)
Accession: SCV000045857.1
Submitted: (Mar 18, 2012)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
unknown functional consequence
Leiden Muscular Dystrophy (TNNT1)
Accession: SCV000045857.1
Submitted: (Mar 18, 2012)
Evidence details

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 rs891186...

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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 Nov 27, 2021