Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_005249.4(FOXG1):c.799G>A (p.Gly267Ser)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA172199

158602 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 27df47a8-b4c0-4855-b601-8b7a887dd00a

Approved on: 2021-03-24

Published on: 2021-05-10

HGVS expressions

NM_005249.4:c.799G>A

NM_005249.4(FOXG1):c.799G>A (p.Gly267Ser)

ENST00000313071.7:c.799G>A

ENST00000313071.6:c.799G>A

NM_005249.5:c.799G>A

NC_000014.9:g.28768078G>A

CM000676.2:g.28768078G>A

NC_000014.8:g.29237284G>A

CM000676.1:g.29237284G>A

NC_000014.7:g.28307035G>A

NG_009367.1:g.5998G>A

Pathogenic

PM2_Supporting PS2_Very Strong PP3 PM1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Gly267Ser variant in FOXG1 has been reported as a de novo occurrence (biological parenthood confirmed) in at least 2 individuals with FOXG1 disorder (internal database - GeneDx) (PS2_very strong). The p.Gly267Ser variant occurs in the well-characterized Fork-head functional domain of the FOXG1 gene (PM1). The p.Gly267Ser variant in FOXG1 is absent from gnomAD (PM2_supporting). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). In summary, the p.Gly267Ser variant in FOXG1 is classified as Pathogenic for FOXG1 disorder based on the ACMG/AMP criteria (PS2_very strong, PM1, PM2_supporting, PP3).

PM2_Supporting

The p.Gly267Se variant in FOXG1 is absent from gnomAD

PS2_Very Strong

The p.Gly267Ser variant in FOXG1 has been reported as a confirmed de novo occurrence in at least 2 individuals with FOXG1-related disorders (Internal database - GeneDx)

PP3

Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own

PM1

The p.Gly267Ser variant occurs in the well-characterized Fork-head functional domain of the FOXG1 gene.

Curation History

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