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

Clinical significance:Uncertain significance (Last evaluated: Dec 18, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001190032.1

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.55667975dup
  • NM_000363.4:c.146dup
Protein change:
K50fs
Molecular consequence:
  • NM_000363.5:c.146dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001357443Color Health, Inccriteria provided, single submitter
Uncertain significance
(Dec 18, 2018)
germlineclinical testing

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

Description

Variant of Uncertain Significance due to insufficient evidence: This variant inserts 1 nucleotide in exon 4 of the TNNI3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Disease-causing variants in TNNI3 are mostly missense variants that act in a dominant-negative manner. The role of TNNI3 truncation variants in cardiomyopathy is not clearly established. Available evidence is insufficient to determine the role of this variant in disease conclusively.

SCV001357443

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV001357443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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