NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) AND Long QT syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 2024
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:
RCV003318342.9

Allele description [Variation Report for NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)]

NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)

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.356C>A (p.Thr119Asn)
HGVS:
  • NC_000019.10:g.55154757G>T
  • NG_007866.2:g.7976C>A
  • NM_000363.5:c.356C>AMANE SELECT
  • NP_000354.4:p.Thr119Asn
  • LRG_432t1:c.356C>A
  • LRG_432:g.7976C>A
  • NC_000019.9:g.55666125G>T
  • NM_000363.4:c.356C>A
  • c.356C>A
Protein change:
T119N
Links:
dbSNP: rs184709702
NCBI 1000 Genomes Browser:
rs184709702
Molecular consequence:
  • NM_000363.5:c.356C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004022024Dept of Medical Biology, Uskudar University
criteria provided, single submitter

(Dept of Medical Biology Variant Classification)		Uncertain significance
(Jan 8, 2024) 		unknownresearch

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkishunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Dept of Medical Biology, Uskudar University, SCV004022024.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkish1not providednot providedresearchnot provided

Description

Criteria: PM2, PP2, BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024