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]
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  • See Evidence submitted by expert panel for details.

Variant: NM_005249.4(FOXG1):c.209_232del24 (p.Gln70_Pro77del)

CA238814

193308 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: d7961e6f-d2ed-4061-a226-266375fc1e71
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_005249.4:c.209_232del24
NM_005249.4:c.209_232delAGCAGCAGCAGCCGCCGCCGCCGC
NM_005249.4(FOXG1):c.209_232del24 (p.Gln70_Pro77del)
ENST00000313071.7:c.209_232del
ENST00000313071.6:c.209_232del
NM_005249.4:c.209_232del
NM_005249.5:c.209_232del
NC_000014.9:g.28767488_28767511del
CM000676.2:g.28767488_28767511del
NC_000014.8:g.29236694_29236717del
CM000676.1:g.29236694_29236717del
NC_000014.7:g.28306445_28306468del
NG_009367.1:g.5408_5431del

Benign

Met criteria codes 4
BP3 BP5_Strong BA1 BS2
Not Met criteria codes 1
PM2

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.Q70_P77del variant in FOXG1 is 0.03% in gnomAD, 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). The p.Q70_P77del variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Q70_P77del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3). The p.Q70_P77del variant is found in at least 3 patients with an alternate molecular basis of disease (internal database) (BP5_strong). In summary, the p.Q70_P77del variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP3, BP5_strong).
Met criteria codes
BP3
The p.Q70_P77del variant is an in-frame deletion present in a repetitive region of FOXG1
BP5_Strong
The p.Q70_P77del variant is found in at least 3 patients with an alternate molecular basis of disease (internal database)
BA1
The allele frequency of the p.Q70_P77del variant in FOXG1 is 0.03% in gnomAD, 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.
BS2
The p.Q70_P77del variant is observed in at least 2 unaffected individuals (internal database)
Not Met criteria codes
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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