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NM_000548.4(TSC2):c.4023C>A (p.Ser1341Arg)

Variation ID: Help
49282
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000548.4(TSC2):c.4023C>A (p.Ser1341Arg)

Allele ID:
58444
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
  • Chr16: 2084245 (on Assembly GRCh38)
  • Chr16: 2134246 (on Assembly GRCh37)
Protein change:
S1341R
HGVS:
  • NG_005895.1:g.39940C>A
  • NM_000548.4:c.4023C>A
  • NP_000539.2:p.Ser1341Arg
  • NC_000016.10:g.2084245C>A (GRCh38)
  • LRG_487t1:c.4023C>A
  • NC_000016.9:g.2134246C>A (GRCh37)
  • NM_000548.3:c.4023C>A
  • P49815:p.Ser1341Arg
  • LRG_487p1:p.Ser1341Arg
  • LRG_487:g.39940C>A
  • p.(Ser1341Arg)
Links:
NCBI 1000 Genomes Browser:
rs45462593
Molecular consequence:
NM_000548.4:c.4023C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (A)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00051
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00025

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
Likely benign
(May 7, 2015)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000516162.4
    Benign
    (Nov 6, 2017)
    criteria provided, single submitter
    clinical testinggermline
      InvitaeSCV000556691.3
      not providedno assertion provided
      curationgermline
        Tuberous sclerosis database (TSC2)SCV000066334.3
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided1germlinenot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
        Invitaenot providednot providedgermlinenot providednot providednot providednot provided
        Tuberous sclerosis database (TSC2)not provided1germlinenot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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