NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000216343.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu)]

NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu)

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.624T>G (p.Phe208Leu)
HGVS:
  • NC_000019.10:g.55151843A>C
  • NG_007866.2:g.10890T>G
  • NG_011829.2:g.2396T>G
  • NM_000363.5:c.624T>GMANE SELECT
  • NP_000354.4:p.Phe208Leu
  • LRG_432t1:c.624T>G
  • LRG_432:g.10890T>G
  • LRG_679:g.2396T>G
  • NC_000019.9:g.55663211A>C
  • NM_000363.4:c.624T>G
Protein change:
F208L
Links:
dbSNP: rs876658026
NCBI 1000 Genomes Browser:
rs876658026
Molecular consequence:
  • NM_000363.5:c.624T>G - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000272526Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jan 22, 2016)
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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000272526.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Phe208Leu variant in TNNI3 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Phe208Leu va riant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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