NM_000363.5(TNNI3):c.108+4G>T AND Hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000229820.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.108+4G>T]

NM_000363.5(TNNI3):c.108+4G>T

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.108+4G>T
HGVS:
  • NC_000019.10:g.55157046C>A
  • NG_007866.2:g.5687G>T
  • NG_032759.1:g.14677G>T
  • NM_000363.5:c.108+4G>TMANE SELECT
  • LRG_432t1:c.108+4G>T
  • LRG_432:g.5687G>T
  • NC_000019.9:g.55668414C>A
  • NM_000363.4:c.108+4G>T
Links:
dbSNP: rs878853954
NCBI 1000 Genomes Browser:
rs878853954
Molecular consequence:
  • NM_000363.5:c.108+4G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; OMIM: PS192600; Human Phenotype Ontology: HP:0001639

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000284650Invitaecriteria provided, single submitter
Uncertain significance
(Jan 1, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000284650.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change falls in intron 3 of the TNNI3 mRNA. It does not directly change the encoded amino acid sequence of the TNNI3 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TNNI3-related disease. This intronic change is not expected to affect splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center