NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030564.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA]

NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA

Gene:
TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA
HGVS:
  • NC_000019.10:g.55153962_55153963insTAGGCC
  • NG_007866.2:g.8771_8772insGCCTAG
  • NG_011829.2:g.277_278insGCCTAG
  • NM_000363.5:c.549+68_549+69insGGCCTAMANE SELECT
  • LRG_432t1:c.549+68_549+69insGCCTAG
  • LRG_432:g.8771_8772insGCCTAG
  • LRG_679:g.277_278insGCCTAG
  • NC_000019.9:g.55665330_55665331insTAGGCC
  • NM_000363.4:c.549+68_549+69insGCCTAG
  • NM_000363.4:c.549+68insGCCTAG
Links:
dbSNP: rs139158921
NCBI 1000 Genomes Browser:
rs139158921
Molecular consequence:
  • NM_000363.5:c.549+68_549+69insGGCCTA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053235Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
uncertain
(Aug 18, 2011)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053235.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Uncertain significance.

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

Last Updated: Sep 24, 2021

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