NM_000363.5(TNNI3):c.206G>A (p.Arg69His) AND Familial hypertrophic cardiomyopathy 7

Clinical significance:Uncertain significance (Last evaluated: Jun 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001280802.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.206G>A (p.Arg69His)]

NM_000363.5(TNNI3):c.206G>A (p.Arg69His)

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.206G>A (p.Arg69His)
HGVS:
  • NC_000019.10:g.55156277C>T
  • NG_007866.2:g.6456G>A
  • NM_000363.5:c.206G>AMANE SELECT
  • NP_000354.4:p.Arg69His
  • LRG_432t1:c.206G>A
  • LRG_432:g.6456G>A
  • NC_000019.9:g.55667645C>T
  • NM_000363.4:c.206G>A
Protein change:
R69H
Molecular consequence:
  • NM_000363.5:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 7 (CMH7)
Synonyms:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; Hypertrophic cardiomyopathy 7; TNNI3-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0013369; MedGen: C1860752; OMIM: 613690

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001468136Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedUncertain significance
(Jun 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV001468136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 19, 2021

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