NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr) AND not specified

Clinical significance:Likely benign (Last evaluated: Apr 6, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000152087.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)]

NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)

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.304G>A (p.Ala102Thr)
HGVS:
  • NC_000019.10:g.55154809C>T
  • NG_007866.2:g.7924G>A
  • NM_000363.5:c.304G>AMANE SELECT
  • NP_000354.4:p.Ala102Thr
  • LRG_432t1:c.304G>A
  • LRG_432:g.7924G>A
  • NC_000019.9:g.55666177C>T
  • NM_000363.4:c.304G>A
Protein change:
A102T
Links:
dbSNP: rs374618872
NCBI 1000 Genomes Browser:
rs374618872
Molecular consequence:
  • NM_000363.5:c.304G>A - 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
SCV000200729Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Sep 24, 2013)
germlineclinical testing

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

SCV000730183GeneDxcriteria provided, single submitter
Likely benign
(Apr 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000200729.5

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

Description

Ala102Thr in exon 6 of TNNI3: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of not e, 4 mammals (marmoset, kangaroo rat, guinea pig, squirrel) have a threonine (Th r) at this position, despite high nearby amino acid conservation. In addition, c omputational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelih ood of impact to the protein. This variant has also been identified in 1/4224 Af rican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS/; dbSNP rs374618872).

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

From GeneDx, SCV000730183.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Jul 7, 2021

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