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NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000190392.3

Allele description [Variation Report for NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu)]

NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu)

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.197C>T (p.Pro66Leu)
HGVS:
  • NC_000001.11:g.11802920G>A
  • NG_008766.1:g.1771G>A
  • NG_013351.1:g.8184C>T
  • NM_001330358.2:c.320C>T
  • NM_005957.5:c.197C>TMANE SELECT
  • NP_001317287.1:p.Pro107Leu
  • NP_005948.3:p.Pro66Leu
  • NP_005948.3:p.Pro66Leu
  • LRG_726t1:c.197C>T
  • LRG_726:g.8184C>T
  • LRG_726p1:p.Pro66Leu
  • NC_000001.10:g.11862977G>A
  • NM_005957.4:c.197C>T
Protein change:
P107L
Links:
dbSNP: rs796064512
NCBI 1000 Genomes Browser:
rs796064512
Molecular consequence:
  • NM_001330358.2:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005957.5:c.197C>T - 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
SCV000243926Inserm U 954, Faculté de Médecine de Nancy
no classification provided
not providedunknownnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided2not providednot provided

Details of each submission

From Inserm U 954, Faculté de Médecine de Nancy, SCV000243926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided2not providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024