Variant: NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup)

CA16619860

421833 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

UUID: e8c8c02e-d175-4322-9e9d-92eb1a2d21c0

Approved on: 2023-12-06

Published on: 2023-12-08

HGVS expressions

NM_005249.5:c.209_235dup
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup)
NC_000014.9:g.28767488_28767514dup
CM000676.2:g.28767488_28767514dup
NC_000014.8:g.29236694_29236720dup
CM000676.1:g.29236694_29236720dup
NC_000014.7:g.28306445_28306471dup
NG_009367.1:g.5408_5434dup
ENST00000313071.7:c.209_235dup
ENST00000313071.6:c.209_235dup
NM_005249.4:c.209_235dup

Benign

• Met criteria codes: BP3 BS2_Supporting BA1

• Not Met criteria codes: BS4 BS3 BS1 BP2 BP5 PS2 PS3 PP4 PP1 PM3 PM1 PM4 PM6 PM2

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

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The allele frequency of the p.Gln70_Pro78dup variant in FOXG1 is 0.09% in the African sub population in gnomAD v4, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). This variant was observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). Additionally, the p.Gln70_Pro78dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). In summary, the p.Gln70_Pro78dup variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BA1, BS2_supporting, BP3).

Met criteria codes

• BP3: The p.Gln70_Pro78dup variant is an in-frame duplication present in a repetitive region of FOXG1
• BS2_Supporting: The p.Gln70_Pro78dup variant is observed in at least 1 unaffected individual (internal database - Invitae)
• BA1: The allele frequency of the p.Gln70_Pro78dup variant in FOXG1 is 0.09% in the African/African American sub population in gnomAD v4, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions

Not Met criteria codes

• BS4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BS3: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BS1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BP2: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BP5: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PS2: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PS3: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PP4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PP1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM3: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM6: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM2: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline