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NM_000456.2(SUOX):c.228G>T (p.Arg76Ser)

Variation ID: Help
309833
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Pathogenic(1);Uncertain significance(1)
Last evaluated:
Mar 16, 2018
Number of submission(s):
2
Condition(s):
Sulfite oxidase deficiency[MedGen - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_000456.2(SUOX):c.228G>T (p.Arg76Ser)

Allele ID:
325952
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.2
Genomic location:
  • Chr12: 56002720 (on Assembly GRCh38)
  • Chr12: 56396504 (on Assembly GRCh37)
Protein change:
R76S
HGVS:
  • NG_008136.1:g.10462G>T
  • NM_000456.2:c.228G>T
  • NP_000447.2:p.Arg76Ser
  • NC_000012.12:g.56002720G>T (GRCh38)
  • NC_000012.11:g.56396504G>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs202085145
Molecular consequence:
NM_000456.2:c.228G>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (T)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00076
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
  • The Genome Aggregation Database (gnomAD) 0.00042
  • The Genome Aggregation Database (gnomAD), exomes 0.00101
  • Trans-Omics for Precision Medicine (TOPMed) 0.00059

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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000380307.2
    Pathogenic
    (Mar 16, 2018)
    criteria provided, single submitter
    in vitro, researchgermlineCenter for Precision Medicine,Vanderbilt University Medical CenterSCV000889983.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided24germlinenot providednot provided
    Center for Precision Medicine,Vanderbilt University Medical Centernot provided24germlinenot providednot providednot provided
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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