Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser)

CA314582

205471 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: bfcb0045-18fc-4465-af0b-d1e27a31e9c5
Approved on: 2024-08-30
Published on: 2024-10-25

HGVS expressions

NM_005249.5:c.376G>A
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser)
NC_000014.9:g.28767655G>A
CM000676.2:g.28767655G>A
NC_000014.8:g.29236861G>A
CM000676.1:g.29236861G>A
NC_000014.7:g.28306612G>A
NG_009367.1:g.5575G>A
ENST00000706482.1:c.376G>A
ENST00000313071.7:c.376G>A
ENST00000313071.6:c.376G>A
NM_005249.4:c.376G>A
More

Benign

Met criteria codes 3
BP5_Strong BS2 BS1
Not Met criteria codes 2
BA1 PM2

Evidence Links 0

Expert Panel

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 highest population minor allele frequency of the p.Gly126Ser variant in FOXG1 in gnomAD v4.1 is 0.0001782 in European (non-Finnish) population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1). The p.Gly126Ser variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The p.Gly126Ser variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx) (BP5_Strong). In summary, the p.Gly126Ser variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP5_Strong).
Met criteria codes
BP5_Strong
The p.Gly126Ser variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx) (BP5_Strong).
BS2
The p.Gly126Ser variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2).
BS1
The highest population minor allele frequency of the p.Gly126Ser variant in FOXG1 in gnomAD v4.1 is 0.0001782 in European (non-Finnish) population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1).
Not Met criteria codes
BA1
The highest population minor allele frequency of the p.Gly126Ser variant in FOXG1 in gnomAD v4.1 is 0.0001782 in European (non-Finnish) population (not sufficient to meet BA1 criteria).
PM2
The highest population minor allele frequency of the p.Gly126Ser variant in FOXG1 in gnomAD v4.1 is 0.0001782 in European (non-Finnish) population (not sufficient to meet PM2_supporting criteria).
Curation History
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