U.S. flag

An official website of the United States government

NM_000363.5(TNNI3):c.526G>A (p.Val176Met) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 5, 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:
RCV000157532.9

Allele description [Variation Report for NM_000363.5(TNNI3):c.526G>A (p.Val176Met)]

NM_000363.5(TNNI3):c.526G>A (p.Val176Met)

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.526G>A (p.Val176Met)
HGVS:
  • NC_000019.10:g.55154053C>T
  • NG_007866.2:g.8680G>A
  • NG_011829.2:g.186G>A
  • NM_000363.5:c.526G>AMANE SELECT
  • NP_000354.4:p.Val176Met
  • LRG_432t1:c.526G>A
  • LRG_432:g.8680G>A
  • LRG_679:g.186G>A
  • NC_000019.9:g.55665421C>T
  • NM_000363.4:c.526G>A
Protein change:
V176M
Links:
dbSNP: rs727503501
NCBI 1000 Genomes Browser:
rs727503501
Molecular consequence:
  • NM_000363.5:c.526G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207278Blueprint Genetics
no assertion criteria provided
Likely pathogenic
(May 5, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000207278.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024