NM_005573.3(LMNB1):c.432G>A (p.Ser144=)

Variation ID: Help
129486
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely benign
Last evaluated:
Jun 14, 2016
Number of submission(s):
2
Condition(s):
  • Leukodystrophy, Adult-Onset [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_005573.3(LMNB1):c.432G>A (p.Ser144=)

Allele ID:
134932
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.2
Genomic location:
  • Chr5: 126804848 (on Assembly GRCh38)
  • Chr5: 126140540 (on Assembly GRCh37)
HGVS:
  • NG_008360.2:g.32708G>A
  • NM_001198557.1:c.-199G>A
  • NM_005573.3:c.432G>A
  • NP_005564.1:p.Ser144=
  • NC_000005.10:g.126804848G>A (GRCh38)
  • NR_134488.1:n.1318G>A
  • NC_000005.9:g.126140540G>A (GRCh37)
Links:
dbSNP: 34224885
NCBI 1000 Genomes Browser:
rs34224885
Molecular consequence:
  • NM_001198557.1:c.-199G>A: 5 prime UTR variant SO:0001623
  • NM_005573.3:c.432G>A: synonymous variant SO:0001819
  • NR_134488.1:n.1318G>A: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.02730 (A)
  • GMAF 0.02260 (A)
  • ExAC 0.01972 (A)

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
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Leukodystrophy, Adult-Onset[MedGen]
germline
    Illumina Clinical Services Laboratory,IlluminaSCV000452349.2
    Likely benignno assertion criteria providedclinical testing
    • not specified (Autosomal dominant inheritance)[MedGen]
    germline
      Genetic Services Laboratory, University of ChicagoSCV000151711.2
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermlinenot providednot provided
      Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providedLikely benign based on allele …Full description
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Aug 23, 2017