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NM_000125.4(ESR1):c.1782G>A (p.Thr594=) AND Migraine with or without aura, susceptibility to

Germline classification:
risk factor (1 submission)
Last evaluated:
Jun 1, 2004
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:
RCV001843377.1

Allele description [Variation Report for NM_000125.4(ESR1):c.1782G>A (p.Thr594=)]

NM_000125.4(ESR1):c.1782G>A (p.Thr594=)

Gene:
ESR1:estrogen receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.1
Genomic location:
Preferred name:
NM_000125.4(ESR1):c.1782G>A (p.Thr594=)
HGVS:
  • NC_000006.12:g.152098960G>A
  • NG_008493.2:g.447270G>A
  • NM_000125.4:c.1782G>AMANE SELECT
  • NM_001122740.2:c.1782G>A
  • NM_001122741.2:c.1782G>A
  • NM_001122742.2:c.1782G>A
  • NM_001291230.2:c.1788G>A
  • NM_001291241.2:c.1779G>A
  • NM_001328100.2:c.851-26306G>A
  • NM_001385568.1:c.1782G>A
  • NM_001385569.1:c.1782G>A
  • NM_001385570.1:c.*197G>A
  • NM_001385571.1:c.*197G>A
  • NM_001385572.1:c.*197G>A
  • NP_000116.2:p.Thr594=
  • NP_001116212.1:p.Thr594=
  • NP_001116213.1:p.Thr594=
  • NP_001116214.1:p.Thr594=
  • NP_001278159.1:p.Thr596=
  • NP_001278170.1:p.Thr593=
  • NP_001372497.1:p.Thr594=
  • NP_001372498.1:p.Thr594=
  • LRG_992t1:c.1782G>A
  • LRG_992:g.447270G>A
  • NC_000006.11:g.152420095G>A
  • NM_000125.3:c.1782G>A
Note:
NCBI staff provided an HGVS expression for 133430.0005 based on this statement in the paper by Colson et al., 2004 (PubMed 15133719): 'occurs in codon 594 of exon 8 and consists of a guanine to adenine change at nucleotide 2014 (SNP rs2228480)'.
Nucleotide change:
594G-A
Links:
OMIM: 133430.0005; dbSNP: rs2228480
NCBI 1000 Genomes Browser:
rs2228480
Molecular consequence:
  • NM_001385570.1:c.*197G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001385571.1:c.*197G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001385572.1:c.*197G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001328100.2:c.851-26306G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000125.4:c.1782G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001122740.2:c.1782G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001122741.2:c.1782G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001122742.2:c.1782G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001291230.2:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001291241.2:c.1779G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385568.1:c.1782G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385569.1:c.1782G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Migraine with or without aura, susceptibility to
Synonyms:
Migraine, susceptibility to
Identifiers:
MONDO: MONDO:0100246; MedGen: CN300932; OMIM: PS157300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038338OMIM
no assertion criteria provided
risk factor
(Jun 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups.

Colson NJ, Lea RA, Quinlan S, MacMillan J, Griffiths LR.

Neurogenetics. 2004 Jun;5(2):129-33. Epub 2004 May 7.

PubMed [citation]
PMID:
15133719

Details of each submission

From OMIM, SCV000038338.1

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

Description

Migraine (157300) is a painful and debilitating disorder with a significant genetic component. Steroid hormones, in particular estrogen, have long been considered to play a role in migraine, as variations in hormone levels are associated with migraine onset in many individuals with the disorder. Steroid hormones mediate their activity via hormone receptors, which have a wide tissue distribution. Estrogen receptors have been localized to the brain in regions considered to be involved in migraine pathogenesis. Colson et al. (2004) examined the ESR1 gene for a potential role in migraine pathogenesis and susceptibility. A population-based cohort of 224 patients with migraine and 224 matched controls were genotyped for the 594G-A polymorphism located in exon 8 of the ESR1 gene. Statistical analysis indicated a significant difference between patients with migraine and those without migraine in both the allele frequencies (P = 0.003) and genotype distributions (P = 0.008). An independent follow-up study using this marker in an additional population-based cohort of 260 patients with migraine and 260 matched controls resulted in a significant association between the 2 groups with regard to allele frequencies and genotype distributions. The findings supported the hypothesis that genetic variation in hormone receptors, in particular the ESR1 gene, may play a role in migraines.

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

Last Updated: Mar 16, 2024