NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2015
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:: RCV000208273.6

Allele description [Variation Report for NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)]

NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)

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.434G>A (p.Arg145Gln)

Other names:

p.R145Q:CGG>CAG

HGVS:

NC_000019.10:g.55154145C>T
NG_007866.2:g.8588G>A
NG_011829.2:g.94G>A
NM_000363.5:c.434G>AMANE SELECT
NP_000354.4:p.Arg145Gln
LRG_432t1:c.434G>A
LRG_432:g.8588G>A
LRG_679:g.94G>A
NC_000019.9:g.55665513C>T
NM_000363.4:c.434G>A
c.434G>A

Protein change:

R145Q

Links:

dbSNP: rs397516349

NCBI 1000 Genomes Browser:

rs397516349

Molecular consequence:

NM_000363.5:c.434G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264250	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Pathogenic (Dec 1, 2015)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9241277, 15607392, 23283745 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264250

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Pathogenic
(Dec 1, 2015)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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	clinical testing

Citations

PubMed

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, et al.

Nat Genet. 1997 Aug;16(4):379-82.

PubMed [citation]

PMID:: 9241277

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.

J Am Coll Cardiol. 2004 Dec 21;44(12):2315-25.

PubMed [citation]

PMID:: 15607392

See all PubMed Citations (3)

Details of each submission

From Blueprint Genetics, SCV000264250.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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		1	not provided	not provided	not provided

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine