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NM_000363.5(TNNI3):c.146dup (p.Lys50fs) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 2023
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:
RCV003293967.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.146dup (p.Lys50fs)]

NM_000363.5(TNNI3):c.146dup (p.Lys50fs)

Gene:
TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.5(TNNI3):c.146dup (p.Lys50fs)
HGVS:
  • NC_000019.10:g.55156607dup
  • NG_007866.2:g.6126dup
  • NM_000363.5:c.146dupMANE SELECT
  • NP_000354.4:p.Lys50fs
  • LRG_432t1:c.146dup
  • LRG_432:g.6126dup
  • NC_000019.9:g.55667974_55667975insA
  • NC_000019.9:g.55667975dup
  • NC_000019.9:g.55667975dup
  • NM_000363.4:c.146dup
  • NM_000363.4:c.146dupT
Protein change:
K50fs
Links:
dbSNP: rs1162696593
NCBI 1000 Genomes Browser:
rs1162696593
Molecular consequence:
  • NM_000363.5:c.146dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004003349Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 24, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004003349.2

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

Description

The c.146dupT variant, located in coding exon 4 of the TNNI3 gene, results from a duplication of T at nucleotide position 146, causing a translational frameshift with a predicted alternate stop codon (p.K50Efs*60). Although biallelic loss of function alterations in TNNI3 have been associated with autosomal recessive dilated cardiomyopathy, haploinsufficiency for TNNI3 has not been clearly established as a mechanism of disease for autosomal dominant cardiomyopathies. Based on the supporting evidence, this variant is expected to be causative of autosomal recessive dilated cardiomyopathy when present along with a second pathogenic variant on the other allele; however, its clinical significance for autosomal dominant cardiomyopathies is unclear.

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

Last Updated: Jan 19, 2025