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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:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264250Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Pathogenic
(Dec 1, 2015) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024