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NM_000363.5(TNNI3):c.562G>A (p.Val188Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000625703.10

Allele description [Variation Report for NM_000363.5(TNNI3):c.562G>A (p.Val188Met)]

NM_000363.5(TNNI3):c.562G>A (p.Val188Met)

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.562G>A (p.Val188Met)
Other names:
p.V188M:GTG>ATG
HGVS:
  • NC_000019.10:g.55151905C>T
  • NG_007866.2:g.10828G>A
  • NG_011829.2:g.2334G>A
  • NM_000363.5:c.562G>AMANE SELECT
  • NP_000354.4:p.Val188Met
  • LRG_432t1:c.562G>A
  • LRG_432:g.10828G>A
  • LRG_679:g.2334G>A
  • NC_000019.9:g.55663273C>T
  • NM_000363.4:c.562G>A
Protein change:
V188M
Links:
dbSNP: rs193922409
NCBI 1000 Genomes Browser:
rs193922409
Molecular consequence:
  • NM_000363.5:c.562G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000696596Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 27, 2016) 		germlineclinical testing

Citation Link

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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, SCV000696596.3

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

Description

Variant summary: The TNNI3 c.562G>A (p.Val188Met) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this substitution. This variant is absent in 120606 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Mutations in nearby residues (Asn185Lys, Arg186Gln, Glu187Gly, Asp190Gly, Arg192Cys) are listed in HGMD as causative variants for cardiomyopathy or atrial fibrillation indicating the functional importance of this region of the protein. A clinical diagnostic laboratory classified this variant as likely pathogenic (without evidence to independently evaluate). Due to the absence of clinical information about variant carriers and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Oct 8, 2024