NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000030564.2

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)

Name:: Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:: Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:: MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053235	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	uncertain (Aug 18, 2011)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053235

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

uncertain
(Aug 18, 2011)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	curation

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053235.2

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

Description

Converted during submission to Uncertain significance.

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

Last Updated: Mar 11, 2023

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