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NM_005249.5(FOXG1):c.201G>T (p.Pro67=) AND FOXG1 disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 26, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001507042.11

Allele description [Variation Report for NM_005249.5(FOXG1):c.201G>T (p.Pro67=)]

NM_005249.5(FOXG1):c.201G>T (p.Pro67=)

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.201G>T (p.Pro67=)
Other names:
p.P67P:CCG>CCT
HGVS:
  • NC_000014.9:g.28767480G>T
  • NG_009367.1:g.5400G>T
  • NM_005249.5:c.201G>TMANE SELECT
  • NP_005240.3:p.Pro67=
  • NC_000014.8:g.29236686G>T
  • NM_005249.3:c.201G>T
  • NM_005249.4:c.201G>T
  • NM_005249.5(FOXG1):c.201G>TMANE SELECT
  • p.Pro67=
Links:
dbSNP: rs587780944
NCBI 1000 Genomes Browser:
rs587780944
Molecular consequence:
  • NM_005249.5:c.201G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
FOXG1 disorder
Identifiers:
MONDO: MONDO:0100040; MedGen: CN297063

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001711991ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel
reviewed by expert panel

(ClinGen RettAS ACMG Specifications V1)		Benign
(Mar 26, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, SCV001711991.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The allele frequency of the p.Pro67= variant in FOXG1 is 0.055% in European (Non-Finnish) sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The silent p.Pro67= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Pro67= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP7).

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

Last Updated: Feb 25, 2025