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NM_000363.5(TNNI3):c.373-4C>G AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 5, 2008
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:
RCV000036287.5

Allele description [Variation Report for NM_000363.5(TNNI3):c.373-4C>G]

NM_000363.5(TNNI3):c.373-4C>G

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.373-4C>G
HGVS:
  • NC_000019.10:g.55154210G>C
  • NG_007866.2:g.8523C>G
  • NG_011829.2:g.29C>G
  • NM_000363.5:c.373-4C>GMANE SELECT
  • LRG_432t1:c.373-4C>G
  • LRG_432:g.8523C>G
  • LRG_679:g.29C>G
  • NC_000019.9:g.55665578G>C
  • NM_000363.4:c.373-4C>G
  • c.373-4C>G
Links:
dbSNP: rs2288530
NCBI 1000 Genomes Browser:
rs2288530
Molecular consequence:
  • NM_000363.5:c.373-4C>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059939Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Likely benign
(Nov 5, 2008)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, et al.

Nat Genet. 1997 Aug;16(4):379-82.

PubMed [citation]
PMID:
9241277

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059939.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: May 1, 2024