NM_000363.5(TNNI3):c.373-15C>G AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 21, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000036286.7

Allele description [Variation Report for NM_000363.5(TNNI3):c.373-15C>G]

NM_000363.5(TNNI3):c.373-15C>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.373-15C>G
HGVS:
  • NC_000019.10:g.55154221G>C
  • NG_007866.2:g.8512C>G
  • NG_011829.2:g.18C>G
  • NM_000363.5:c.373-15C>GMANE SELECT
  • LRG_432t1:c.373-15C>G
  • LRG_432:g.8512C>G
  • LRG_679:g.18C>G
  • NC_000019.9:g.55665589G>C
  • NM_000363.4:c.373-15C>G
  • c.373-15C>G
Links:
dbSNP: rs192630178
NCBI 1000 Genomes Browser:
rs192630178
Molecular consequence:
  • NM_000363.5:c.373-15C>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

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
SCV000059938Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Nov 21, 2012)
germlineclinical testing

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

SCV001920765Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not 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, SCV000059938.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

373-15C>G in intron 6 of TNNI3: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (13/4048) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs192630178). 373-15C>G in intron 6 of TNNI 3 (rs192630178; allele frequency = 0.3%, 13/4048) **

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001920765.1

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

Last Updated: Oct 2, 2021

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