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NM_000363.5(TNNI3):c.536A>G (p.Glu179Gly) AND Dilated cardiomyopathy 1FF

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 28, 2020
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:
RCV001530202.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.536A>G (p.Glu179Gly)]

NM_000363.5(TNNI3):c.536A>G (p.Glu179Gly)

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.536A>G (p.Glu179Gly)
HGVS:
  • NC_000019.10:g.55154043T>C
  • NG_007866.2:g.8690A>G
  • NG_011829.2:g.196A>G
  • NM_000363.5:c.536A>GMANE SELECT
  • NP_000354.4:p.Glu179Gly
  • LRG_432t1:c.536A>G
  • LRG_432:g.8690A>G
  • LRG_679:g.196A>G
  • NC_000019.9:g.55665411T>C
  • NM_000363.4:c.536A>G
Protein change:
E179G
Links:
dbSNP: rs2147283171
NCBI 1000 Genomes Browser:
rs2147283171
Molecular consequence:
  • NM_000363.5:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1FF (CMD1FF)
Synonyms:
Cardiomyopathy, dilated, 1N
Identifiers:
MONDO: MONDO:0013211; MedGen: C2750091; Orphanet: 154; OMIM: 613286

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001739499Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 28, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East asiade novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital, SCV001739499.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East asia1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023