NM_000363.4(TNNI3):c.562G>A (p.Val188Met) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030565.1

Allele description [Variation Report for ]

NM_000363.4(TNNI3):c.562G>A (p.Val188Met)

Gene:
TNNI3:troponin I type 3 (cardiac) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.4(TNNI3):c.562G>A (p.Val188Met)
HGVS:
  • NC_000019.10:g.55151905C>T
  • NG_007866.2:g.10828G>A
  • NM_000363.4:c.562G>A
  • NP_000354.4:p.Val188Met
  • NC_000019.9:g.55663273C>T
  • p.V188M:GTG>ATG
Protein change:
V188M
Links:
dbSNP: 193922409
NCBI 1000 Genomes Browser:
rs193922409
Molecular consequence:
  • NM_000363.4:c.562G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hypertrophic cardiomyopathy; CMH; Cardiomyopathy, hypertrophic; See all synonyms [MedGen]
Identifiers:
MedGen: C0949658; Orphanet: 155; Orphanet: 217569; Orphanet: 99739

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000053236LabCorpclassified by single submitterlikely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testingmissense mutation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From LabCorp, SCV000053236.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedcurationnot provided
2not providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteMYBPC3:c.506-12delC, MYBPC3:c.3288G>A, MYH7:c.732C>T, MYH7:c.3337-3dupC, MYH7:c.2967T>C, MYH7:c.189C>T, MYH7:c.1062C>T, TNNI3:c.537G>A, TNNI3:c.25-8T>A, TNNI3:c.373-10T>G, TNNT2:c.53-11_53-7delCTTCT, TNNT2:c.318C>T, TPM1:c.453C>A1

Last Updated: Apr 24, 2015