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 ClinVar but not with the Allele Registry data
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  • See Evidence submitted by expert panel for details.

95265 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 6febdba7-972f-4712-b536-2ae06173aaa9
Approved on: 2022-08-25
Published on: 2022-09-06

HGVS expressions

NM_005249.5:c.209AGC[5]
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)

Benign

Met criteria codes 3
BS2 BS1 BP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The allele frequency of the p.Gln73dup variant in FOXG1 is 0.008% in European (non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Gln73dup variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Gln73dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). In summary, the p.Gln73dup variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP3).
Met criteria codes
BS2
The p.Gln73dup variant is observed in at least 2 unaffected individuals (internal database)
BS1
The allele frequency of the p.Gln73dup variant in FOXG1 is 0.008% in European (non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
BP3
The p.Gln73dup variant is an in-frame duplication present in a repetitive region of FOXG1
Curation History
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