NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 20, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000143957.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu)]

NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu)

HGVS:

NC_000019.10:g.55151901C>T
NG_007866.2:g.10832G>A
NG_011829.2:g.2338G>A
NM_000363.5:c.566G>AMANE SELECT
NP_000354.4:p.Gly189Glu
LRG_432t1:c.566G>A
LRG_432:g.10832G>A
LRG_679:g.2338G>A
NC_000019.9:g.55663269C>T
NM_000363.4:c.566G>A

Protein change:

G189E

Links:

dbSNP: rs587782980

NCBI 1000 Genomes Browser:

rs587782980

Molecular consequence:

NM_000363.5:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000188837	Blueprint Genetics	no assertion criteria provided	Uncertain significance (Dec 20, 2013)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188837

Blueprint Genetics

no assertion criteria provided

Uncertain significance
(Dec 20, 2013)

germline

clinical testing

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 Blueprint Genetics, SCV000188837.1

#	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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