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NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) AND Left ventricular noncompaction cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002054586.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)]

NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)

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.428C>A (p.Thr143Asn)
Other names:
p.T143N:ACC>AAC
HGVS:
  • NC_000019.10:g.55154151G>T
  • NG_007866.2:g.8582C>A
  • NG_011829.2:g.88C>A
  • NM_000363.5:c.428C>AMANE SELECT
  • NP_000354.4:p.Thr143Asn
  • LRG_432t1:c.428C>A
  • LRG_432:g.8582C>A
  • LRG_679:g.88C>A
  • NC_000019.9:g.55665519G>T
  • NM_000363.4:c.428C>A
  • c.428C>A
Protein change:
T143N
Links:
dbSNP: rs397516348
NCBI 1000 Genomes Browser:
rs397516348
Molecular consequence:
  • NM_000363.5:c.428C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Left ventricular noncompaction cardiomyopathy
Identifiers:
MedGen: C4021133; Human Phenotype Ontology: HP:0011664

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002495733Klaassen Lab, Charite University Medicine Berlin
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.

Schultze-Berndt A, Kühnisch J, Herbst C, Seidel F, Al-Wakeel-Marquard N, Dartsch J, Theisen S, Knirsch W, Jenni R, Greutmann M, Oechslin E, Berger F, Klaassen S.

Front Pediatr. 2021;9:722926. doi: 10.3389/fped.2021.722926.

PubMed [citation]
PMID:
34540771
PMCID:
PMC8447880

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 Klaassen Lab, Charite University Medicine Berlin, SCV002495733.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024