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NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 7, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000143974.1

Allele description [Variation Report for NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu)]

NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu)

Gene:
TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu)
HGVS:
  • NC_000022.11:g.19918998C>A
  • NG_011835.1:g.27839G>T
  • NM_001282512.3:c.236G>T
  • NM_001352300.2:c.233G>T
  • NM_001352301.2:c.146G>T
  • NM_001352302.2:c.-53G>T
  • NM_001352303.2:c.140G>T
  • NM_006440.5:c.236G>TMANE SELECT
  • NP_001269441.1:p.Arg79Leu
  • NP_001339229.1:p.Arg78Leu
  • NP_001339230.1:p.Arg49Leu
  • NP_001339232.1:p.Arg47Leu
  • NP_006431.2:p.Arg79Leu
  • LRG_417:g.27839G>T
  • NC_000022.10:g.19906521C>A
  • NM_006440.4:c.236G>T
  • NR_147957.2:n.194G>T
Protein change:
R47L
Links:
dbSNP: rs373979810
NCBI 1000 Genomes Browser:
rs373979810
Molecular consequence:
  • NM_001352302.2:c.-53G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282512.3:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352300.2:c.233G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352301.2:c.146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352303.2:c.140G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006440.5:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147957.2:n.194G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188855Blueprint Genetics
no assertion criteria provided
Uncertain significance
(Jan 7, 2014)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000188855.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024