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)
Protein change:
C667T, A222V
HGVS:
  • NG_013351.1:g.14783C>T
  • NM_005957.4:c.665C>T
  • NC_000001.11:g.11796321G>A (GRCh38)
  • NP_005948.3:p.Ala222Val
  • LRG_726t1:c.665C>T
  • NC_000001.10:g.11856378G>A (GRCh37)
  • 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)

Variant frequency in dbGaP Help

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

GRCh37 Chr1:11856378
Called variantsPotential variants
Sample count5643 of 1072520900 of 41063

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
(Mar 10, 2015)
no assertion criteria providedliterature only
  • MTHFR deficiency, thermolabile type[MedGen]
germlineOMIMSCV000023860.4
Uncertain significanceno assertion criteria providedcase-controlgermlineDepartment of Pharmacy and Biotechnology,University of BolognaSCV000187678.1
not provided
(May 12, 2015)
no assertion provided
(EGL Classification Definitions)
clinical testinggermline
    Emory Genetics Laboratory,Emory UniversitySCV000203040.3

    PGx

    Clinical significance
    (Last evaluated)
    Review status
    (Assertion method)
    Collection methodCondition(s)
    (Mode of inheritance)
    OriginCitationsSubmitter - Study nameSubmission accession
    drug responsereviewed by expert panel
    (Pharmacogenomics knowledge for personalized medicine)
    literature onlyCondition: not provided
    germlinePharmGKBSCV000268236.1
    drug responsereviewed by expert panel
    (Pharmacogenomics knowledge for personalized medicine)
    literature onlyCondition: carboplatin response - Efficacy
    • Drug reported used for: Carcinoma, Non-Small-Cell Lung[MedGen]
    germlinePharmGKBSCV000268238.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided156germlineAsiannot provided
    Department of Pharmacy and Biotechnology,University of Bolognanot provided76germlinenot providednot providednot provided
    Emory Genetics Laboratory,Emory Universitynot provided80germlinenot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    PharmGKBnot providednot providedgermlineAsiannot providedPharmGKB Level of Evidence 2A:…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Aug 22, 2016