NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) 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:
RCV000013232.23

Allele description [Variation Report for NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)]

NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)

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.616A>C (p.Lys206Gln)
HGVS:
  • NC_000019.10:g.55151851T>G
  • NG_007866.2:g.10882A>C
  • NG_011829.2:g.2388A>C
  • NM_000363.5:c.616A>CMANE SELECT
  • NP_000354.4:p.Lys206Gln
  • LRG_432t1:c.616A>C
  • LRG_432:g.10882A>C
  • LRG_432p1:p.Lys206Gln
  • LRG_679:g.2388A>C
  • NC_000019.9:g.55663219T>G
  • P19429:p.Lys206Gln
Protein change:
K206Q; LYS206GLN
Links:
UniProtKB: P19429#VAR_007604; OMIM: 191044.0002; dbSNP: rs104894725
NCBI 1000 Genomes Browser:
rs104894725
Molecular consequence:
  • NM_000363.5:c.616A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 7 (CMH7)
Synonyms:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; Hypertrophic cardiomyopathy 7; TNNI3-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0013369; MedGen: C1860752; OMIM: 613690

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033479OMIMno 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, SCV000033479.2

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

Description

In a Japanese male patient with sporadic hypertrophic cardiomyopathy (CMH7; 613690), Kimura et al. (1997) identified heterozygosity for an A-C transversion in exon 8 of the TNNI3 gene, resulting in a lys206-to-gln (K206Q) substitution at a highly conserved residue. The mutation was not found in the unaffected parents.

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

Last Updated: Feb 19, 2021

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