NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jul 29, 2016
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:: RCV000157533.6

Allele description [Variation Report for NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)]

NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)

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.557G>A (p.Arg186Gln)

HGVS:

NC_000019.10:g.55151910C>T
NG_007866.2:g.10823G>A
NG_011829.2:g.2329G>A
NM_000363.5:c.557G>AMANE SELECT
NP_000354.4:p.Arg186Gln
LRG_432t1:c.557G>A
LRG_432:g.10823G>A
LRG_679:g.2329G>A
NC_000019.9:g.55663278C>T
NM_000363.4:c.557G>A
P19429:p.Arg186Gln
c.557G>A

Protein change:

R186Q

Links:

UniProtKB: P19429#VAR_019876; dbSNP: rs397516357

NCBI 1000 Genomes Browser:

rs397516357

Molecular consequence:

NM_000363.5:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000207279	Blueprint Genetics	no assertion criteria provided	Pathogenic (May 13, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 12707239, 23540544
SCV000740429	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 29, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207279

Blueprint Genetics

no assertion criteria provided

Pathogenic
(May 13, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000740429

Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 29, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project..

Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. Erratum in: Circulation. 2004 Jun 29;109(25):3258.

PubMed [citation]

PMID:: 12707239

Dramatically different phenotypic expressions of hypertrophic cardiomyopathy in male cousins undergoing cardiac transplantation with identical disease-causing gene mutation.

Roberts WC, Roberts CC, Ko JM, Grayburn PA, Tandon A, Kuiper JJ, Capehart JE, Hall SA.

Am J Cardiol. 2013 Jun 15;111(12):1818-22. doi: 10.1016/j.amjcard.2013.02.042. Epub 2013 Mar 27.

PubMed [citation]

PMID:: 23540544

See all PubMed Citations (3)

Details of each submission

From Blueprint Genetics, SCV000207279.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	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		2	not provided	not provided	not provided

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV000740429.1

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

#	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: Feb 28, 2024

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