NM_000363.5(TNNI3):c.563_569del (p.Val188fs) AND Hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Apr 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001301660.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.563_569del (p.Val188fs)]

NM_000363.5(TNNI3):c.563_569del (p.Val188fs)

Gene:
TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.5(TNNI3):c.563_569del (p.Val188fs)
HGVS:
  • NC_000019.10:g.55151898_55151904del
  • NG_007866.2:g.10829_10835del
  • NG_011829.2:g.2335_2341del
  • NM_000363.5:c.563_569delMANE SELECT
  • NP_000354.4:p.Val188fs
  • LRG_432:g.10829_10835del
  • LRG_679:g.2335_2341del
  • NC_000019.9:g.55663266_55663272del
Protein change:
V188fs
Molecular consequence:
  • NM_000363.5:c.563_569del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; OMIM: PS192600; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001490837Invitaecriteria provided, single submitter
Uncertain significance
(Apr 1, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001490837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change results in a premature translational stop signal in the TNNI3 gene (p.Val188Alafs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acids of the TNNI3 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNNI3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 7, 2021

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