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NM_002454.2(MTRR):c.1982A>G (p.His661Arg)

Variation ID: Help
203841
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_002454.2(MTRR):c.1982A>G (p.His661Arg)

Allele ID:
200105
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.31
Genomic location:
  • Chr5: 7899943 (on Assembly GRCh38)
  • Chr5: 7900056 (on Assembly GRCh37)
Other names:
  • p.H688R:CAT>CGT
Protein change:
H661R, H688R
HGVS:
  • NG_008856.1:g.35840A>G
  • NM_002454.2:c.1982A>G
  • NM_024010.2:c.2063A>G
  • NP_002445.2:p.His661Arg
  • NP_076915.2:p.His688Arg
  • NC_000005.10:g.7899943A>G (GRCh38)
  • NR_134480.1:n.2105A>G
  • NC_000005.9:g.7900056A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs148909799
Molecular consequence:
  • NM_002454.2:c.1982A>G: missense variant SO:0001583
  • NR_134480.1:n.2105A>G: non-coding transcript variant SO:0001619
Allele frequency:
  • 1000 Genomes Project 0.00060 (G)
  • 1000 Genomes Project 0.00060
  • Exome Aggregation Consortium (ExAC) 0.00187
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
  • The Genome Aggregation Database (gnomAD) 0.00210
  • The Genome Aggregation Database (gnomAD), exomes 0.00186
  • Trans-Omics for Precision Medicine (TOPMed) 0.00205

1 Affected gene

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
(Sep 28, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000239005.6
    Uncertain significance
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testing
    • Disorders of Intracellular Cobalamin Metabolism[MedGen]
    germline
      Illumina Clinical Services Laboratory,IlluminaSCV000458455.2
      Uncertain significance
      (Oct 17, 2016)
      criteria provided, single submitter
      clinical testinggermline
        ARUP Laboratories, Molecular Genetics and Genomics,ARUP LaboratoriesSCV000604299.1
        Uncertain significance
        (Jun 15, 2017)
        criteria provided, single submitter
        clinical testinggermline
          Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000610503.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot providednot providedgermlinenot providednot provided
          ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriesnot providednot providedgermlinenot providednot providednot providednot provided
          Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
          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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