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NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000167610.1

Allele description [Variation Report for NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu)]

NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu)

Gene:
MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu)
HGVS:
  • NC_000001.11:g.11794781T>C
  • NG_013351.1:g.16323A>G
  • NM_001330358.2:c.1237A>G
  • NM_005957.5:c.1114A>GMANE SELECT
  • NP_001317287.1:p.Lys413Glu
  • NP_005948.3:p.Lys372Glu
  • NP_005948.3:p.Lys372Glu
  • LRG_726t1:c.1114A>G
  • LRG_726:g.16323A>G
  • LRG_726p1:p.Lys372Glu
  • NC_000001.10:g.11854838T>C
  • NM_005957.4:c.1114A>G
  • P42898:p.Lys372Glu
Protein change:
K372E
Links:
UniProtKB: P42898#VAR_074141; dbSNP: rs786204024
NCBI 1000 Genomes Browser:
rs786204024
Molecular consequence:
  • NM_001330358.2:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005957.5:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Synonyms:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY; Homocysteinemia due to MTHFR deficiency; Homocysteinemia due to methylenetetrahydro-folate reductase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009353; MedGen: C1856061; Orphanet: 395; OMIM: 236250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000218491University Children's Hospital, University of Zurich
no assertion criteria provided

(Clinical disease; enzymatic activity/kinetics in patient fibroblasts)		Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27.

PubMed [citation]
PMID:
25736335

Details of each submission

From University Children's Hospital, University of Zurich, SCV000218491.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024