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NM_007347.4(AP4E1):c.222+18G>A

Variation ID: Help
380768
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
May 31, 2017
Number of submission(s):
3
Condition(s):
  • Spastic paraplegia 51, autosomal recessive [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_007347.4(AP4E1):c.222+18G>A

Allele ID:
373594
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
  • Chr15: 50912167 (on Assembly GRCh38)
  • Chr15: 51204364 (on Assembly GRCh37)
HGVS:
  • NG_031875.1:g.8496G>A
  • NM_001252127.1:c.-27+18G>A
  • NM_007347.4:c.222+18G>A
  • NC_000015.10:g.50912167G>A (GRCh38)
  • NC_000015.9:g.51204364G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs1147129
Molecular consequence:
NM_007347.4:c.222+18G>A: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.44090 (G)
  • 1000 Genomes Project 0.55911
  • Exome Aggregation Consortium (ExAC) 0.56529
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.56279
  • The Genome Aggregation Database (gnomAD) 0.55312
  • The Genome Aggregation Database (gnomAD), exomes 0.57126
  • Trans-Omics for Precision Medicine (TOPMed) 0.55811

1 Affected gene

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
(Feb 1, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000519180.4
    Benign
    (May 31, 2017)
    criteria provided, single submitter
    clinical testing
    • Spastic paraplegia 51, autosomal recessive[MedGen | OMIM]
    germline
      DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center - VKGL Data-share ConsensusSCV000745414.1
      Benignno assertion criteria providedclinical testing
      • Spastic paraplegia 51, autosomal recessive[MedGen | OMIM]
      germline
        Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen - VKGL Data-share ConsensusSCV000733462.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot providednot providedgermlinenot providednot provided
        DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Centernot providednot providedgermlinenot providednot providednot providednot provided
        Diagnostic Laboratory, Department of Genetics,University Medical Center Groningennot providednot providedgermlinenot providednot providednot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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