NM_000363.4(TNNI3):c.616A>G (p.Lys206Glu) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 28, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000159250.1

Allele description [Variation Report for NM_000363.4(TNNI3):c.616A>G (p.Lys206Glu)]

NM_000363.4(TNNI3):c.616A>G (p.Lys206Glu)

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.616A>G (p.Lys206Glu)
Other names:
p.K206E:AAA>GAA
HGVS:
  • NC_000019.10:g.55151851T>C
  • NG_007866.2:g.10882A>G
  • NM_000363.4:c.616A>G
  • NP_000354.4:p.Lys206Glu
  • LRG_432t1:c.616A>G
  • LRG_432:g.10882A>G
  • LRG_432p1:p.Lys206Glu
  • NC_000019.9:g.55663219T>C
Protein change:
K206E
Links:
dbSNP: rs104894725
NCBI 1000 Genomes Browser:
rs104894725
Molecular consequence:
  • NM_000363.4:c.616A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000209196GeneDxcriteria provided, single submitter
Pathogenic
(Jun 28, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000209196.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Lys206Glu mutation in the TNNI3 gene has not been reported to our knowledge, a mutation affecting this same codon, (Lys206Gln), has been reported in association with HCM (Kimura A et al., 1997). Additionally, mutations in nearby residues (Gly203Ser, Gly203Arg, Arg204Cys, Arg204His) have been reported in association with HCM, further supporting the functional importance of this codon and this region of the protein. Lys206Glu results in a non-conservative amino acid substitution of a positively charged Lysine with a negatively charged Glutamic acid at a position that is conserved across species. In silico analysis predicts Lys206Glu is probably damaging to the protein structure/function. Furthermore, Lys206Glu was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, Lys206Glu in the TNNI3 gene is interpreted as a likely disease-causing mutation. The variant is found in HCM panel(s).

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

Last Updated: Sep 8, 2018