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NM_003283.6(TNNT1):c.791+192dup

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 29, 2021)
Last evaluated:
Aug 10, 2019
Accession:
VCV001295837.1
Variation ID:
1295837
Description:
1bp duplication
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NM_003283.6(TNNT1):c.791+192dup

Allele ID
1285632
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55133680-55133681 (GRCh38) GRCh38 UCSC
19: 55645048-55645049 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_679:g.20558dup
LRG_679t1:c.791+192dup
NC_000019.10:g.55133695dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:55133680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Aug 10, 2019 RCV001723085.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Aug 10, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001947180.1
Submitted: (Sep 29, 2021)

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.

Record last updated Nov 06, 2021