NM_000363.4(TNNI3):c.607G>A (p.Gly203Ser) AND Familial hypertrophic cardiomyopathy 7

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1997)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013245.24

Allele description [Variation Report for NM_000363.4(TNNI3):c.607G>A (p.Gly203Ser)]

NM_000363.4(TNNI3):c.607G>A (p.Gly203Ser)

Gene:
TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.4(TNNI3):c.607G>A (p.Gly203Ser)
HGVS:
  • NC_000019.10:g.55151860C>T
  • NG_007866.2:g.10873G>A
  • NM_000363.4:c.607G>A
  • NP_000354.4:p.Gly203Ser
  • LRG_432t1:c.607G>A
  • LRG_432:g.10873G>A
  • LRG_432p1:p.Gly203Ser
  • NC_000019.9:g.55663228C>T
Protein change:
G203S; GLY203SER
Links:
OMIM: 191044.0014; dbSNP: 267607127
NCBI 1000 Genomes Browser:
rs267607127
Molecular consequence:
  • NM_000363.4:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 7 (CMH7)
Synonyms:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; TNNI3-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MedGen: C1860752; OMIM: 613690

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033492OMIMno assertion criteria providedPathogenic
(Aug 1, 1997)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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

Details of each submission

From OMIM, SCV000033492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese mother and her son and daughter with hypertrophic cardiomyopathy (CMH7; 613690), Kimura et al. (1997) identified heterozygosity for a G-A transition in exon 8 of the TNNI3 gene, resulting in a gly203-to-ser (G203S) substitution at a highly conserved residue. The affected individuals in this family had cardiac hypertrophy only at the apex (apical CMH), and all 3 also exhibited Wolff-Parkinson-White ventricular preexcitation (WPW; 194200).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 7, 2016