NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
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:: RCV001003977.2

Allele description [Variation Report for NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)]

NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)

Gene:

FOXG1:forkhead box G1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)

HGVS:

NC_000014.9:g.28767903C>A
NG_009367.1:g.5823C>A
NM_005249.5:c.624C>AMANE SELECT
NP_005240.3:p.Tyr208Ter
NC_000014.8:g.29237109C>A
NM_005249.3:c.624C>A
NM_005249.4:c.624C>A
p.Y208X

Protein change:

Y208*

Links:

dbSNP: rs267606826

Molecular consequence:

NM_005249.5:c.624C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Global developmental delay (DD)
Synonyms:: Cognitive delay
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Axial hypotonia
Synonyms:: Muscular hypotonia of the trunk
Identifiers:: MedGen: C1853743; Human Phenotype Ontology: HP:0008936

Name:: Stereotypic movement disorder
Synonyms:: stereotypies; stereotyped movement disorder
Identifiers:: MONDO: MONDO:0002265; MedGen: C0038273

Name:: Strabismus
Identifiers:: MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486

Name:: Abnormal optic nerve morphology
Synonyms:: Abnormality of the optic nerve
Identifiers:: MedGen: C0029131; Human Phenotype Ontology: HP:0000587

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001162003	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001162003

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Pathogenic

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]

PMID:: 32581362
PMCID:: PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162003.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 15, 2026

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