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NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 20, 2021)
Last evaluated:
Jun 19, 2018
Accession:
VCV000036882.2
Variation ID:
36882
Description:
6bp insertion
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NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA

Allele ID
45543
Variant type
Insertion
Variant length
6 bp
Cytogenetic location
19q13.42
Genomic location
19: 55153961-55153962 (GRCh38) GRCh38 UCSC
19: 55665329-55665330 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55153962_55153963insTAGGCC
NC_000019.9:g.55665330_55665331insTAGGCC
NG_011829.2:g.277_278insGCCTAG
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:55153961:C:CTAGGCC
Functional consequence
-
Global minor allele frequency (GMAF)
0.03474 (CTAGGCC)

Allele frequency
-
Links
ClinGen: CA021871
dbSNP: rs139158921
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 18, 2011 RCV000030564.1
Benign 1 criteria provided, single submitter Jun 19, 2018 RCV001682717.1
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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
uncertain
(Aug 18, 2011)
criteria provided, single submitter
Method: curation
Hypertrophic Cardiomyopathy
(autosomal unknown)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000053235.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Uncertain significance.
Benign
(Jun 19, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001901172.1
Submitted: (Sep 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 rs139158921...

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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 24, 2021