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NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 2019
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:
RCV002323893.9

Allele description [Variation Report for NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)]

NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)
HGVS:
  • NC_000001.11:g.201365254_201365255delinsAG
  • NG_007556.1:g.17423_17424delinsCT
  • NM_000364.4:c.347_348delinsCT
  • NM_001001430.3:c.317_318delinsCT
  • NM_001001431.3:c.317_318delinsCT
  • NM_001001432.3:c.302_303delinsCT
  • NM_001276345.2:c.347_348delinsCTMANE SELECT
  • NM_001276346.2:c.291+355_291+356delinsCT
  • NM_001276347.2:c.317_318delinsCT
  • NP_000355.2:p.Ile116Thr
  • NP_001001430.1:p.Ile106Thr
  • NP_001001431.1:p.Ile106Thr
  • NP_001001432.1:p.Ile101Thr
  • NP_001263274.1:p.Ile116Thr
  • NP_001263276.1:p.Ile106Thr
  • LRG_431t1:c.347_348delinsCT
  • LRG_431:g.17423_17424delinsCT
  • LRG_431p1:p.Ile116Thr
  • NC_000001.10:g.201334382_201334383delinsAG
  • NM_001001430.1:c.317_318delTCinsCT
  • NM_001001430.1:c.317_318delinsCT
  • NM_001001430.2:c.317_318delTCinsCT
Protein change:
I101T
Links:
dbSNP: rs1553282523
NCBI 1000 Genomes Browser:
rs1553282523
Molecular consequence:
  • NM_001276346.2:c.291+355_291+356delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000364.4:c.347_348delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.317_318delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.317_318delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.302_303delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.347_348delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.317_318delinsCT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002609605Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 8, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002609605.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.317_318delTCinsCT variant (also known as p.I106T), located in coding exon 8 of the TNNT2 gene, results from an in-frame deletion of TC and insertion of CT at nucleotide positions 317 to 318. This results in the substitution of the isoleucine residue for a threonine residue at codon 106, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 16, 2024