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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Variant: NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)

CA172179

158592 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 5d396a34-4917-4dd1-a195-07453abfa9eb
Approved on: 2023-04-14
Published on: 2023-06-16

HGVS expressions

NM_005249.5:c.209_235del
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
NC_000014.9:g.28767488_28767514del
CM000676.2:g.28767488_28767514del
NC_000014.8:g.29236694_29236720del
CM000676.1:g.29236694_29236720del
NC_000014.7:g.28306445_28306471del
NG_009367.1:g.5408_5434del
ENST00000313071.7:c.209_235del
ENST00000313071.6:c.209_235del
NM_005249.4:c.209_235del
More

Benign

Met criteria codes 3
BS2 BP3 BA1

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 c.209_235del variant in FOXG1 is 0.17% in Ashkenazi Jewish sub population 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.Gln70_Pro78del variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Gln70_Pro78del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3). In summary, the p.Gln70_Pro78del variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP3).
Met criteria codes
BS2
The p.Gln70_Pro78del variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2).
BP3
The p.Gln70_Pro78del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3).
BA1
The allele frequency of the c.209_235del variant in FOXG1 is 0.17% in Ashkenazi Jewish sub population 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.
Curation History
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