Click here to see the new Variation Report design!

NM_003300.3(TRAF3):c.1509C>T (p.Ser503=)

Variation ID: Help
540501
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Jan 2, 2018
Number of submission(s):
1
Condition(s):
Herpes simplex encephalitis, susceptibility to, 3[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003300.3(TRAF3):c.1509C>T (p.Ser503=)

Allele ID:
528428
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.32
Genomic location:
  • Chr14: 102905586 (on Assembly GRCh38)
  • Chr14: 103371923 (on Assembly GRCh37)
HGVS:
  • NG_027973.1:g.133108C>T
  • NM_003300.3:c.1509C>T
  • NM_145725.2:c.1509C>T
  • NP_003291.2:p.Ser503=
  • NP_663777.1:p.Ser503=
  • NC_000014.9:g.102905586C>T (GRCh38)
  • LRG_229t1:c.1509C>T
  • NC_000014.8:g.103371923C>T (GRCh37)
  • LRG_229p1:p.Ser503=
  • LRG_229:g.133108C>T
Links:
NCBI 1000 Genomes Browser:
rs138943371
Molecular consequence:
NM_145725.2:c.1509C>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.00160 (T)
  • 1000 Genomes Project 0.00160
  • Exome Aggregation Consortium (ExAC) 0.00249
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00300
  • The Genome Aggregation Database (gnomAD) 0.00404
  • The Genome Aggregation Database (gnomAD), exomes 0.00266
  • Trans-Omics for Precision Medicine (TOPMed) 0.00196

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Jan 2, 2018)
criteria provided, single submitter
clinical testing
  • Herpes simplex encephalitis, susceptibility to, 3[MedGen | OMIM]
germline
    InvitaeSCV000772398.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Invitaenot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

    Support Center