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.455G>C (p.Gly152Ala)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA389475129

538817 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 2b929ff0-8b7d-4641-bbea-2611b4ad2ad3

Approved on: 2023-10-13

Published on: 2023-12-08

HGVS expressions

NM_005249.5:c.455G>C

NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala)

NC_000014.9:g.28767734G>C

CM000676.2:g.28767734G>C

NC_000014.8:g.29236940G>C

CM000676.1:g.29236940G>C

NC_000014.7:g.28306691G>C

NG_009367.1:g.5654G>C

ENST00000313071.7:c.455G>C

ENST00000313071.6:c.455G>C

NM_005249.4:c.455G>C

Benign

BP5_Strong BS2 BS1 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.Gly152Ala variant in FOXG1 is 0.008% in Latino 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.Gly152Ala variant is observed in at least 20 unaffected individuals (internal database - GeneDx; internal database - Invitae) (BS2).The p.Gly152Ala variant is found in at least 4 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae) (BP5_strong). Computational analysis prediction tools suggest that the p.Gly152Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly152Ala variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_strong, BP4).

BP5_Strong

The p.Gly152Ala variant is found in at least 4 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae) (BP5_strong).

BS2

The p.Gly152Ala variant is observed in at least 20 unaffected individuals (internal database - GeneDx; internal database - Invitae) (BS2).

BS1

BP4

Computational analysis prediction tools suggest that the p.Gly152Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.