NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 19, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001682717.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA]

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

Gene:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

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

HGVS:

NC_000019.10:g.55153962_55153963insTAGGCC
NG_007866.2:g.8771_8772insGCCTAG
NG_011829.2:g.277_278insGCCTAG
NM_000363.5:c.549+68_549+69insGGCCTAMANE SELECT
LRG_432t1:c.549+68_549+69insGCCTAG
LRG_432:g.8771_8772insGCCTAG
LRG_679:g.277_278insGCCTAG
NC_000019.9:g.55665330_55665331insTAGGCC
NM_000363.4:c.549+68_549+69insGCCTAG
NM_000363.4:c.549+68insGCCTAG

Links:

dbSNP: rs139158921

NCBI 1000 Genomes Browser:

rs139158921

Molecular consequence:

NM_000363.5:c.549+68_549+69insGGCCTA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001901172	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jun 19, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001901172

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jun 19, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001901172.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 11, 2023

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Relating variation to medicine