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.672C>G (p.Gly224=)

CA172189

158597 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 934a786c-fbe9-425c-a5bb-904d238bc687

Approved on: 2023-04-14

Published on: 2023-06-16

HGVS expressions

NM_005249.5:c.672C>G

NM_005249.5(FOXG1):c.672C>G (p.Gly224=)

NC_000014.9:g.28767951C>G

CM000676.2:g.28767951C>G

NC_000014.8:g.29237157C>G

CM000676.1:g.29237157C>G

NC_000014.7:g.28306908C>G

NG_009367.1:g.5871C>G

ENST00000313071.7:c.672C>G

ENST00000313071.6:c.672C>G

NM_005249.4:c.672C>G

Benign

BA1

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.Gly224= variant in FOXG1 is 0.136% in Latino 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). In summary, the p.Gly224= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1).

BA1

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