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NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Thrombophilia due to thrombin defect

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 2017
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:
RCV000761447.10

Allele description [Variation Report for NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)]

NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)

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.665C>T (p.Ala222Val)
Other names:
MTHFR, 677C-T, ALA222VAL (rs1801133); C667T
HGVS:
  • NC_000001.11:g.11796321G>A
  • NG_013351.1:g.14783C>T
  • NM_001330358.2:c.788C>T
  • NM_005957.5:c.665C>TMANE SELECT
  • NP_001317287.1:p.Ala263Val
  • NP_005948.3:p.Ala222Val
  • NP_005948.3:p.Ala222Val
  • LRG_726t1:c.665C>T
  • LRG_726:g.14783C>T
  • LRG_726p1:p.Ala222Val
  • NC_000001.10:g.11856378G>A
  • NM_005957.4:c.665C>T
  • P42898:p.Ala222Val
Protein change:
A222V; ALA222VAL
Links:
Genetic Testing Registry (GTR): GTR000593372; PharmGKB: 827848365; PharmGKB: 827848365PA450428; PharmGKB: 981204929; PharmGKB: 981204929PA449165; PharmGKB: 981220481; PharmGKB: 981220481PA448803; PharmGKB Clinical Annotation: 981204929; PharmGKB Clinical Annotation: 981220481; UniProtKB: P42898#VAR_009528; OMIM: 607093.0003; dbSNP: rs1801133
NCBI 1000 Genomes Browser:
rs1801133
Molecular consequence:
  • NM_001330358.2:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005957.5:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thrombophilia due to thrombin defect (THPH1)
Synonyms:
Thrombosis susceptibility; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; Prothrombin-Related Thrombophilia (Factor II)
Identifiers:
MONDO: MONDO:0008559; MedGen: C3160733; OMIM: 188050

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    Audiometry, Evoked Response
    A form of electrophysiologic audiometry in which an analog computer is included in the circuit to average out ongoing or spontaneous brain wave activity. A characteristic patt...<br/>Year introduced: 1986(1980)
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  • Psychoacoustics
    Psychoacoustics
    The science pertaining to the interrelationship of psychologic phenomena and the individual's response to the physical properties of sound.<br/>Year introduced: 1972(1968)
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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891532Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
no assertion criteria provided
Uncertain significance
(Dec 30, 2017) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Hereditary thrombophilia in ethnic Omani patients.

Pathare A, Al Kindi S, Al Haddabi H, Dennison D, Bayoumi R, Muralitharan S.

Am J Hematol. 2006 Feb;81(2):101-6.

PubMed [citation]
PMID:
16432849

Details of each submission

From Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, SCV000891532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024