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_005249.4(FOXG1):c.561C>A (p.Asn187Lys)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA204685

205485 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 021968c7-1749-4560-b21e-7deb642bfa60

Approved on: 2021-03-25

Published on: 2021-05-10

HGVS expressions

NM_005249.4:c.561C>A

NM_005249.4(FOXG1):c.561C>A (p.Asn187Lys)

NC_000014.9:g.28767840C>A

CM000676.2:g.28767840C>A

NC_000014.8:g.29237046C>A

CM000676.1:g.29237046C>A

NC_000014.7:g.28306797C>A

NG_009367.1:g.5760C>A

ENST00000313071.7:c.561C>A

ENST00000313071.6:c.561C>A

NM_005249.5:c.561C>A

Pathogenic

PS2_Very Strong PS4 PM1 PM2_Supporting

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.Asn187Lys variant in FOXG1 has been reported as a de novo occurrence (biological parenthood confirmed) in at least 2 individuals with FOXG1 disorder (PMID 26795593, 28661489) (PS2_very strong). The p.Asn187Lys variant in FOXG1 has been observed in at least 5 other individuals with FOXG1 disorder (PMID 26795593, 25356970, 28661489) (PS4). This variant occurs in the well-characterized Forkhead functional domain of the FOXG1 (PM1). The p.Asn187Lys variant in FOXG1 is absent from gnomAD (PM2_supporting). In summary, the p.Asn187Lys variant in FOXG1 is classified as Pathogenic for FOXG1 disorder based on the ACMG/AMP criteria (PS2_very strong, PS4, PM1, PM2_supporting).

PS2_Very Strong

The p.N187K (c.561 C>A) variant in FOXG1 has been reported as a confirmed de novo occurrence in at least 2 individuals with FOXG1-related disorders (PMID 26795593; 28661489)

PS4

The c.561C>A (p.Asn187Lys) variant has been observed in at least 5 individuals with FOXG1 syndrome (PMID 26795593, 25356970, 28661489).

PM1

The p.Asn187Lys variant occurs in the well-characterized Forkhead functional domain of the FOXG1.

PM2_Supporting

The p.Asn187Lys variant in FOXG1 is absent from gnomAD.

Curation History

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