U.S. flag

An official website of the United States government

NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 20, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001195633.5

Allele description [Variation Report for NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)]

NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)

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.632G>T (p.Ter211Leu)
Other names:
p.X211L:TGA>TTA; *211L
HGVS:
  • NC_000019.10:g.55151835C>A
  • NG_007866.2:g.10898G>T
  • NG_011829.2:g.2404G>T
  • NM_000363.5:c.632G>TMANE SELECT
  • NP_000354.4:p.Ter211Leu
  • LRG_432t1:c.632G>T
  • LRG_432:g.10898G>T
  • LRG_679:g.2404G>T
  • NC_000019.9:g.55663203C>A
  • NM_000363.4:c.632G>T
Links:
dbSNP: rs730881084
NCBI 1000 Genomes Browser:
rs730881084
Molecular consequence:
  • NM_000363.5:c.632G>T - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004222906Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 20, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004222906.1

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

Description

Variant summary: TNNI3 c.632G>T (p.X211LeuextX20) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. The variant allele was found at a frequency of 4e-06 in 249570 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.632G>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024