Evidence Repository - Clinical Genome Resources

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.218A>C (p.Gln73Pro)

CA238810

193306 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 3f0124ab-b79d-45ed-90e7-a56317665c70

Approved on: 2023-10-13

Published on: 2023-12-08

HGVS expressions

NM_005249.5:c.218A>C

NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)

NC_000014.9:g.28767497A>C

CM000676.2:g.28767497A>C

NC_000014.8:g.29236703A>C

CM000676.1:g.29236703A>C

NC_000014.7:g.28306454A>C

NG_009367.1:g.5417A>C

ENST00000313071.7:c.218A>C

ENST00000313071.6:c.218A>C

NM_005249.4:c.218A>C

Benign

BS1 BS2 BP5_Strong BP4

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

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.Gln73Pro variant in FOXG1 is 0.027% in the 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.Gln73Pro variant is observed in at least 50 unaffected individuals (internal database - GeneDx) (BS2). The p.Gln73Pro variant is found in at least 8 individuals with an alternate molecular basis of disease (internal database - Invitae, internal database - GeneDx) (BP5_Strong). Computational analysis prediction tools suggest that the p.Gln73Pro variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gln73Pro variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_Strong, BP4).

BS1

BS2

The p.Gln73Pro variant is observed in at least 50 unaffected individuals (internal database - GeneDx) (BS2).

BP5_Strong

The p.Gln73Pro variant is found in at least 8 individuals with an alternate molecular basis of disease (internal database - Invitae, internal database - GeneDx) (BP5_Strong).

BP4

Computational analysis prediction tools suggest that the p.Gln73Pro variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).

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