• not current

NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Feb 5, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000257931.2

Allele description

NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp)

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp)
Other names:
p.R141W:CGG>TGG
HGVS:
  • NC_000001.11:g.201364336G>A
  • NG_007556.1:g.18342C>T
  • NM_000364.3:c.451C>T
  • NM_001001430.2:c.421C>T
  • NP_000355.2:p.Arg151Trp
  • NP_001001430.1:p.Arg141Trp
  • NC_000001.10:g.201333464G>A
  • NM_000364.2:c.451C>T
  • NM_001001430.1:c.421C>T
  • P45379:p.Arg151Trp
Protein change:
R141W; ARG141TRP
Links:
UniProtKB: P45379#VAR_016198; OMIM: 191045.0007; dbSNP: rs74315379
GMAF:
0.0006(T), 74315379
NCBI 1000 Genomes Browser:
rs74315379
Molecular consequence:
  • NM_001001430.2:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hypertrophic cardiomyopathy
Identifiers:
MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220085CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontariocriteria provided, single submitter
Likely pathogenic
(Feb 5, 2015)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario, SCV000220085.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 3, 2018