Variant
FOXG1 G250S
NM_005249.5(FOXG1):c.748G>A (p.Gly250Ser)
- p.Gly250Ser
- p.G250S
- rs2138661461
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 18 December 2024
- Expert panel
- ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
G250S is a missense variant in FOXG1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for FOXG1 disorder (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| FOXG1 disorderClinVar VCV002443586 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 18 December 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in FOXG1
G250S lies in exon 1 of the 1 in FOXG1's MANE Select transcript, NM_005249.5.
Molecular details
| Gene | FOXG1 |
|---|---|
| Transcript | NM_005249.5MANE Select |
| Coding DNA change (HGVS c.) | c.748G>A |
| Protein change (HGVS p.) | p.Gly250Serp.G250S |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr14:28768027 G>A |
| Position (GRCh37) | chr14:29237233 G>A |
| dbSNP ID | rs2138661461 (opens in a new tab) |
| ClinVar Variation ID | VCV002443586 (opens in a new tab) |
| ClinVar Allele ID | 2417321 |
| ClinGen Allele Registry ID | CA389475782 (opens in a new tab) |
| ClinVar name | NM_005249.5(FOXG1):c.748G>A (p.Gly250Ser) |
FOXG1 G250S in other databases
Reports that look at this variant (1)
These Genome Test condition reports include G250S among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Epilepsy (Full Panel) | Atypical Rett Syndrome |
Other variants in FOXG1
- E154Gfs*301Pathogenic3 stars out of 4
- G224SLikely pathogenic3 stars out of 4
- G267SPathogenic3 stars out of 4
- I207TLikely pathogenic3 stars out of 4
- I229LLikely pathogenic3 stars out of 4
- L189VLikely pathogenic3 stars out of 4
- M191ILikely pathogenic3 stars out of 4
- N187KPathogenic3 stars out of 4
- N236DLikely pathogenic3 stars out of 4
- P63Afs*61Pathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). FOXG1 G250S (c.748G>A, rs2138661461) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/foxg1/variants/g250s
Dante Labs. FOXG1 G250S (c.748G>A, rs2138661461) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/foxg1/variants/g250s
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