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]

Variant: NM_005249.5(FOXG1):c.251C>A (p.Pro84His)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA16606972

380242 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 730af61e-30b2-4069-a5ff-815ecda50686

Approved on: 2023-10-13

Published on: 2023-12-08

HGVS expressions

NM_005249.5:c.251C>A

NM_005249.5(FOXG1):c.251C>A (p.Pro84His)

NC_000014.9:g.28767530C>A

CM000676.2:g.28767530C>A

NC_000014.8:g.29236736C>A

CM000676.1:g.29236736C>A

NC_000014.7:g.28306487C>A

NG_009367.1:g.5450C>A

ENST00000313071.7:c.251C>A

ENST00000313071.6:c.251C>A

NM_005249.4:c.251C>A

Benign

BP5_Strong BS2 BP4

BS1

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 p.Pro84His variant in FOXG1 is present in 1 individual in gnomAD (0.0039%) (not sufficient to meet BS1 criteria). The p.Pro84His variant is observed in at least 20 unaffected individuals (internal database - GeneDx; internal database - Invitae) (BS2). The p.Pro84His variant is found in at least 4 patients with an alternate molecular basis of disease (internal database - Invitae; internal database - GeneDx) (BP5_strong). Computational analysis prediction tools suggest that the p.Pro84His variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Pro84His variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS2, BP5_strong, BP4).

BP5_Strong

The p.Pro84His variant is found in at least 4 patients with an alternate molecular basis of disease (internal database - Invitae; internal database - GeneDx) (BP5_strong).

BS2

The p.Pro84His variant is observed in at least 20 unaffected individuals (internal database - GeneDx; internal database - Invitae) (BS2).

BP4

Computational analysis prediction tools suggest that the p.Pro84His variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).

BS1

The p.Pro84His variant in FOXG1 is present in 1 individual in gnomAD (0.0039%) (not sufficient to meet BS1 criteria).

Curation History

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