NM_000363.5(TNNI3):c.536_549+1del AND Hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Dec 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001314026.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.536_549+1del]

NM_000363.5(TNNI3):c.536_549+1del

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.536_549+1del
HGVS:
  • NC_000019.10:g.55154035_55154049del
  • NG_007866.2:g.8690_8704del
  • NG_011829.2:g.196_210del
  • NM_000363.5:c.536_549+1delMANE SELECT
  • LRG_432:g.8690_8704del
  • LRG_679:g.196_210del
  • NC_000019.9:g.55665397_55665411delCCTTCTCGGTGTCCT
  • NC_000019.9:g.55665403_55665417del
Links:
Molecular consequence:
  • NM_000363.5:c.536_549+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001504540Invitaecriteria provided, single submitter
Uncertain significance
(Dec 22, 2017)
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, SCV001504540.1

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

Description

This variant is a gross deletion of the genomic region encompassing part of exon 7 of the TNNI3 gene, including the exon 7-intron 7 boundary (c.536_549+1del). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 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 disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids 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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