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NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000148897.6

Allele description [Variation Report for NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)]

NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)

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.586G>A (p.Asp196Asn)
Other names:
p.D196N:GAT>AAT
HGVS:
  • NC_000019.10:g.55151881C>T
  • NG_007866.2:g.10852G>A
  • NG_011829.2:g.2358G>A
  • NM_000363.5:c.586G>AMANE SELECT
  • NP_000354.4:p.Asp196Asn
  • LRG_432t1:c.586G>A
  • LRG_432:g.10852G>A
  • LRG_679:g.2358G>A
  • NC_000019.9:g.55663249C>T
  • NM_000363.4:c.586G>A
  • P19429:p.Asp196Asn
  • c.586G>A
Protein change:
D196N; ASP196ASN
Links:
UniProtKB: P19429#VAR_016085; OMIM: 191044.0004; dbSNP: rs104894727
NCBI 1000 Genomes Browser:
rs104894727
Molecular consequence:
  • NM_000363.5:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190643CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Likely pathogenic
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190643.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024