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.95A>G (p.Asn32Ser)

CA389474374

1144732 (ClinVar)

Gene: FOXG1 (HGNC:2290)

Condition: FOXG1 disorder (MONDO:0100040)

Inheritance Mode: Autosomal dominant inheritance

UUID: 342de681-0348-4ea5-9a5f-661c03750bd2

Approved on: 2025-06-25

Published on: 2025-06-30

HGVS expressions

NM_005249.5:c.95A>G

NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser)

NC_000014.9:g.28767374A>G

CM000676.2:g.28767374A>G

NC_000014.8:g.29236580A>G

CM000676.1:g.29236580A>G

NC_000014.7:g.28306331A>G

NG_009367.1:g.5294A>G

ENST00000706482.1:c.95A>G

ENST00000313071.7:c.95A>G

ENST00000313071.6:c.95A>G

NM_005249.4:c.95A>G

Uncertain Significance

BS2_Supporting PM2_Supporting BP4 BP5

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 4.1.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Asn32Ser variant in FOXG1 is absent from gnomAD v4.1 (PM2_Supporting). The p.Asn32Ser variant is observed in at least 1 unaffected individual (internal database - Labcorp Genetics) (BS2_Supporting). The p.Asn32Ser variant is found in a patient with an alternate molecular basis of disease (internal database - Labcorp Genetics) (BP5). The computational predictor REVEL gives a score of 0.083, which is below the threshold of 0.290, evidence that does not predict a damaging effect on FOXG1 function (BP4). In summary, the p.Asn32Ser variant in FOXG1 is classified as a variant of unknown significance based on the ACMG/AMP criteria (PM2_Supporting, BS2_Supporting, BP5, BP4). (FOXG1 Specifications v.4.1; curation approved on [06/25/2025])

BS2_Supporting

The p.Asn32Ser variant is observed in at least 1 unaffected individual (internal database - Labcorp Genetics) (BS2_Supporting).

PM2_Supporting

The p.Asn32Ser variant in FOXG1 is absent from gnomAD v4.1 (PM2_Supporting).

BP4

The computational predictor REVEL gives a score of 0.083, which is below the threshold of 0.290, evidence that does not predict a damaging effect on FOXG1 function (BP4).

BP5

The p.Asn32Ser variant is found in a patient with an alternate molecular basis of disease (internal database - Labcorp Genetics) (BP5).

Curation History

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