NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)

Variation ID: Help
21022
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)

Allele ID:
33874
Variant type:
single nucleotide variant
Cytogenetic location:
17p13
Genomic location:
  • Chr17: 7220033 (on Assembly GRCh38)
  • Chr17: 7123352 (on Assembly GRCh37)
Protein change:
L17F
HGVS:
  • NG_007975.1:g.5200C>T
  • NM_000018.3:c.49C>T
  • NM_001270447.1:c.132-89C>T
  • NM_001270448.1:c.-255C>T
  • NP_000009.1:p.Leu17Phe
  • NC_000017.11:g.7220033C>T (GRCh38)
  • NC_000017.10:g.7123352C>T (GRCh37)
  • NM_000018.2:c.49C>T
  • P49748:p.Leu17Phe
Links:
NCBI 1000 Genomes Browser:
rs2230179
Molecular consequence:
  • NM_000018.3:c.49C>T: missense variant SO:0001583
  • NM_001270447.1:c.132-89C>T: intron variant SO:0001627
  • NM_001270448.1:c.-255C>T: 5 prime UTR variant SO:0001623
Allele frequency:
  • GO-ESP 0.02180 (T)
  • GMAF 0.02120 (T)
  • ExAC 0.00717 (T)

Variant frequency in dbGaP Help

NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)

GRCh37 Chr17:7123352
Called variantsPotential variants
Sample count123 of 8321623 of 34134

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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
(May 14, 2015)
criteria provided, single submitter
clinical testinggermline
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000281019.1
    Benigncriteria provided, single submitter
    clinical testinggermline
      PreventionGenetics,PreventionGeneticsSCV000301525.1
      Benign
      (Mar 30, 2016)
      criteria provided, single submitter
      clinical testinggermlineEmory Genetics Laboratory,Emory UniversitySCV000330995.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000406304.2
        Benign
        (Sep 22, 2011)
        no assertion criteria providedliterature onlynot providedGeneReviewsSCV000040376 .1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided5germline, not providednot providednot provided
        Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
        Emory Genetics Laboratory,Emory Universitynot provided5germlinenot providednot providednot provided
        GeneReviewsnot providednot providednot providednot providednot providednot provided
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 19, 2017