NM_000363.5(TNNI3):c.12-50_12-47dup AND not provided

Clinical significance:Benign (Last evaluated: Jun 18, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000830447.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.12-50_12-47dup]

NM_000363.5(TNNI3):c.12-50_12-47dup

Gene:
TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.5(TNNI3):c.12-50_12-47dup
HGVS:
  • NC_000019.10:g.55157354_55157355insCTGT
  • NC_000019.10:g.55157357_55157360dup
  • NG_007866.2:g.5375_5378dup
  • NG_032759.1:g.14365_14368dup
  • NM_000363.5:c.12-50_12-47dupMANE SELECT
  • LRG_432t1:c.12-52_12-49dup
  • LRG_432:g.5375_5378dup
  • NC_000019.9:g.55668725_55668728dup
  • NC_000019.9:g.55668725_55668728dupGTCT
  • NM_000363.4:c.12-52_12-49dupAGAC
Links:
dbSNP: rs377373012
NCBI 1000 Genomes Browser:
rs377373012
Molecular consequence:
  • NM_000363.5:c.12-50_12-47dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000972182GeneDxcriteria provided, single submitter
Benign
(Jun 18, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000972182.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Feb 27, 2021

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