NM_001130161.2(STOX1):c.457T>C (p.Tyr153His) AND Preeclampsia/eclampsia 4

Clinical significance:risk factor (Last evaluated: Nov 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000001789.1

Allele description [Variation Report for NM_001130161.2(STOX1):c.457T>C (p.Tyr153His)]

NM_001130161.2(STOX1):c.457T>C (p.Tyr153His)

Gene:
STOX1:storkhead box 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_001130161.2(STOX1):c.457T>C (p.Tyr153His)
HGVS:
  • NC_000010.11:g.68882104T>C
  • NG_012975.1:g.59567T>C
  • NM_001130161.2:c.457T>C
  • NP_001123633.1:p.Tyr153His
  • NC_000010.10:g.70641860T>C
  • Q6ZVD7:p.Tyr153His
Protein change:
Y153H; TYR153HIS
Links:
UniProtKB: Q6ZVD7#VAR_023785; OMIM: 609397.0001; dbSNP: rs1341667
NCBI 1000 Genomes Browser:
rs1341667
Molecular consequence:
  • NM_001130161.2:c.457T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Preeclampsia/eclampsia 4 (PEE4)
Identifiers:
MedGen: C1836255; OMIM: 609404

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021945OMIMno assertion criteria providedrisk factor
(Nov 4, 2012)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family.

van Dijk M, Mulders J, Poutsma A, K├Ânst AA, Lachmeijer AM, Dekker GA, Blankenstein MA, Oudejans CB.

Nat Genet. 2005 May;37(5):514-9. Epub 2005 Apr 3.

PubMed [citation]
PMID:
15806103

STOX1 is not imprinted and is not likely to be involved in preeclampsia.

Iglesias-Platas I, Monk D, Jebbink J, Buimer M, Boer K, van der Post J, Hills F, Apostolidou S, Ris-Stalpers C, Stanier P, Moore GE.

Nat Genet. 2007 Mar;39(3):279-80; author reply 280-1. No abstract available.

PubMed [citation]
PMID:
17325670

Details of each submission

From OMIM, SCV000021945.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 23 preeclamptic Dutch sib pairs (609404), van Dijk et al. (2005) identified a tyr153-to-his (Y153H) substitution in exon 2 of the STOX1 gene. The substitution arose from a 458T-C transition. The authors traced informative nucleotide variations across 3 generations in 6 of the 23 families and found that the mutation on the maternal allele in the second generation was transmitted to 13 children in the third generation who were born from preeclamptic pregnancies, whereas the 2 children who were born of normal pregnancies did not carry the mutated maternal allele.

Iglesias-Platas et al. (2007) observed a high frequency of the CC genotype of the Y153H variation in uncomplicated pregnancies, which led them to conclude that this allele cannot be considered a mutation predisposing to preeclampsia.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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