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NM_022445.3(TPK1):c.119T>C (p.Leu40Pro)

Variation ID: Help
30570
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Sep 22, 2016
Number of submission(s):
2
Condition(s):
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [MedGen - Orphanet - OMIM]
  • Inborn genetic diseases [MeSH - MedGen]
See supporting ClinVar records

Allele(s) Help

NM_022445.3(TPK1):c.119T>C (p.Leu40Pro)

Allele ID:
39527
Variant type:
single nucleotide variant
Cytogenetic location:
7q35
Genomic location:
  • Chr7: 144682975 (on Assembly GRCh38)
  • Chr7: 144380068 (on Assembly GRCh37)
Protein change:
L40P
HGVS:
  • NG_032112.1:g.158079T>C
  • NM_022445.3:c.119T>C
  • NP_071890.2:p.Leu40Pro
  • NC_000007.14:g.144682975A>G (GRCh38)
  • NC_000007.13:g.144380068A>G (GRCh37)
  • Q9H3S4:p.Leu40Pro
Links:
NCBI 1000 Genomes Browser:
rs387906936
Molecular consequence:
NM_022445.3:c.119T>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD), exomes 0.00001

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Sep 22, 2016)
criteria provided, single submitter
clinical testing
  • Inborn genetic diseases[MeSH | MedGen]
germlineAmbry GeneticsSCV000741702.1
Pathogenic
(Dec 9, 2011)
no assertion criteria providedliterature only
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)[MedGen | Orphanet | OMIM]
germlineOMIMSCV000044824.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided1germlineEuropean-originnot provided
Ambry Geneticsnot provided1germlineEuropean-originnot providedLines of evidence used in supp…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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