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_005249.5(FOXG1):c.701C>T (p.Ser234Phe)

CA314620

205491 (ClinVar)

Gene: FOXG1 (HGNC:2290)

Condition: FOXG1 disorder (MONDO:0100040)

Inheritance Mode: Autosomal dominant inheritance

UUID: c78214c2-6594-4a67-a350-7d60cc42c93c

Approved on: 2024-06-25

Published on: 2024-08-23

HGVS expressions

NM_005249.5:c.701C>T

NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)

NC_000014.9:g.28767980C>T

CM000676.2:g.28767980C>T

NC_000014.8:g.29237186C>T

CM000676.1:g.29237186C>T

NC_000014.7:g.28306937C>T

NG_009367.1:g.5900C>T

ENST00000706482.1:c.701C>T

ENST00000313071.7:c.701C>T

ENST00000313071.6:c.701C>T

NM_005249.4:c.701C>T

Pathogenic

PP3 PS2_Very Strong PM2_Supporting PS4_Moderate

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 3.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Ser234Phe variant in FOXG1 has been reported as a de novo occurrence (biological parentage confirmed) in at least 3 individuals with FOXG1-disorder (Internal database – Ambry, PMID 37308910) (PS2_Very Strong). The p.Ser234Phe variant has been observed in at least 3 individuals with FOXG1-disorder (Internal database – Invitae, PMID 26633542, 38539105) (PS4_Moderate). The p.Ser234Phe variant in FOXG1 is absent from gnomAD v4.1 (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.Ser234Phe variant in FOXG1 is classified as Pathogenic for FOXG1-disorder based on the ACMG/AMP criteria (PS2_Very Strong, PS4_Moderate, PM2_Supporting, PP3).

PP3

Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3).

PS2_Very Strong

The p.Ser234Phe variant in FOXG1 has been reported as a de novo occurrence (biological parentage confirmed) in at least 3 individuals with FOXG1-related disorder (Internal database - Ambry, PMID 37308910).

PM2_Supporting

The p.Ser234Phe variant in FOXG1 is absent from gnomAD v2.1 (PM2_Supporting).

PS4_Moderate

The p.Ser234Phe variant has been observed in at least 3 individuals with FOXG1-disorder (Internal database - Invitae, PMID 26633542, 38539105).

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.