NM_005957.4(MTHFR):c.665C>T (p.Ala222Val)

Variation ID: Help
3520
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_005957.4(MTHFR):c.665C>T (p.Ala222Val)

Allele ID:
18559
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.2
Genomic location:
  • Chr1: 11796321 (on Assembly GRCh38)
  • Chr1: 11856378 (on Assembly GRCh37)
Other names:
  • MTHFR, 677C-T, ALA222VAL (rs1801133)
  • C667T
Protein change:
A222V
HGVS:
  • NG_013351.1:g.14783C>T
  • NM_005957.4:c.665C>T
  • NP_005948.3:p.Ala222Val
  • NC_000001.11:g.11796321G>A (GRCh38)
  • LRG_726t1:c.665C>T
  • NC_000001.10:g.11856378G>A (GRCh37)
  • P42898:p.Ala222Val
  • LRG_726p1:p.Ala222Val
  • LRG_726:g.14783C>T
Links:
NCBI 1000 Genomes Browser:
rs1801133
Molecular consequence:
NM_005957.4:c.665C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.27057 (A)
  • GMAF 0.24540 (A)
  • ExAC 0.30367 (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
other
(May 12, 2015)
criteria provided, single submitter
clinical testinggermline
    EGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000203040.5
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testing
    • Neural tube defects, folate-sensitive[MedGen | OMIM]
    germline
      Illumina Clinical Services Laboratory,IlluminaSCV000347807.2
      Benign
      (Apr 25, 2016)
      criteria provided, single submitter
      clinical testinggermline
        GeneDxSCV000519504.2
        Benign
        (Feb 28, 2017)
        no assertion criteria providedliterature only
        • MTHFR deficiency, thermolabile type[MedGen]
        germlineOMIMSCV000023860.5
        Pathogenicno assertion criteria providedclinical testing
        • MTHFR deficiency, thermolabile type[MedGen]
        germline
          FirmaLabSCV000106043.1
          Uncertain significanceno assertion criteria providedcase-controlgermlineDepartment of Pharmacy and Biotechnology,University of BolognaSCV000187678.1

          Somatic

          Clinical significance
          (Last evaluated)
          Review status
          (Assertion method)
          Collection methodCondition(s)
          (Mode of inheritance)
          OriginCitationsSubmitter - Study nameSubmission accession
          not provided
          (Mar 10, 2016)
          no assertion providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
          Study description
          SCV000505736.1

          PGx

          Clinical significance
          (Last evaluated)
          Review status
          (Assertion method)
          Collection methodCondition(s)
          (Mode of inheritance)
          OriginCitationsSubmitter - Study nameSubmission accession
          drug responsereviewed by expert panel
          literature onlyCondition: not provided
          germlinePharmGKBSCV000268236.2
          drug responsereviewed by expert panel
          literature onlyCondition: carboplatin response - Efficacy
          • Drug reported used for: Carcinoma, Non-Small-Cell Lung[MedGen]
          germlinePharmGKBSCV000268238.2
          drug responsereviewed by expert panel
          literature onlyCondition: methotrexate response - Dosage, Efficacy, Toxicity/ADR
          • Drug reported used for: Neoplasms[MedGen]
          germlinePharmGKBSCV000494694.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided224germline, somaticnot providednot provided
          Database of Curated Mutations (DoCM)not providednot providedsomaticnot providednot providednot provided
          Department of Pharmacy and Biotechnology,University of Bolognanot provided76germlinenot providednot providednot provided
          EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided148germlinenot providednot providednot provided"Variant classified as "other …Full description
          FirmaLabnot providednot providedgermlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
          Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
          OMIMnot providednot providedgermlinenot providednot providednot provided
          PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 2A:…Full description
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Dec 11, 2017