NM_000363.5(TNNI3):c.307C>G (p.Arg103Gly) AND Hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Mar 15, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000198680.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.307C>G (p.Arg103Gly)]

NM_000363.5(TNNI3):c.307C>G (p.Arg103Gly)

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.307C>G (p.Arg103Gly)
HGVS:
  • NC_000019.10:g.55154806G>C
  • NG_007866.2:g.7927C>G
  • NM_000363.5:c.307C>GMANE SELECT
  • NP_000354.4:p.Arg103Gly
  • LRG_432t1:c.307C>G
  • LRG_432:g.7927C>G
  • NC_000019.9:g.55666174G>C
  • NM_000363.4:c.307C>G
Protein change:
R103G
Links:
dbSNP: rs397516344
NCBI 1000 Genomes Browser:
rs397516344
Molecular consequence:
  • NM_000363.5:c.307C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000254530Invitaecriteria provided, single submitter
Uncertain significance
(Mar 15, 2015)
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, SCV000254530.2

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

Description

This sequence change replaces arginine with glycine at codon 103 of the TNNI3 protein (p.Arg103Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant has not been published in the literature and is not present in population databases. A computational algorithm designed to assess the pathogenicity of variants in TNNI3 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275) In summary, this is a rare missense change with uncertain impact on protein function. 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

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