NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr) AND Familial restrictive cardiomyopathy 1

Clinical significance:Likely pathogenic (Last evaluated: May 1, 2016)

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:
RCV000490996.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr)]

NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr)

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.379G>T (p.Asp127Tyr)
HGVS:
  • NC_000019.10:g.55154200C>A
  • NG_007866.2:g.8533G>T
  • NG_011829.2:g.39G>T
  • NM_000363.5:c.379G>TMANE SELECT
  • NP_000354.4:p.Asp127Tyr
  • LRG_432t1:c.379G>T
  • LRG_432:g.8533G>T
  • LRG_679:g.39G>T
  • NC_000019.9:g.55665568C>A
  • NM_000363.4:c.379G>T
Protein change:
D127Y
Links:
dbSNP: rs1114167340
NCBI 1000 Genomes Browser:
rs1114167340
Molecular consequence:
  • NM_000363.5:c.379G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Familial restrictive cardiomyopathy 1 (RCM1)
Identifiers:
MONDO: MONDO:0007270; MedGen: C1861861; Orphanet: 75249; OMIM: 115210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000298147Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalenno assertion criteria providedLikely pathogenic
(May 1, 2016)
de novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, SCV000298147.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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