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]

Link to SEPIO compliant JSON-LD document

Variant: NM_005249.4(FOXG1):c.177_186dup (p.Pro63Alafs)

CA658658250

451937 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 5949edb8-8ee8-43f4-9654-75b3f99f7c5d

HGVS expressions

NM_005249.4:c.177_186dupGCCGCCCGCC

NM_005249.4:c.177_186dup

NM_005249.4(FOXG1):c.177_186dup (p.Pro63Alafs)

ENST00000313071.7:c.177_186dup

ENST00000313071.6:c.177_186dup

NM_005249.5:c.177_186dup

NC_000014.9:g.28767456_28767465dup

CM000676.2:g.28767456_28767465dup

NC_000014.8:g.29236662_29236671dup

CM000676.1:g.29236662_29236671dup

NC_000014.7:g.28306413_28306422dup

NG_009367.1:g.5376_5385dup

Pathogenic

PS2 PVS1 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.Pro63Alafs variant in FOXG1 is predicted to cause a premature stop codon that leads to a truncated or absent protein in a gene where loss-of-function is an established mechanism. There is significant evidence that loss of this region of the gene is pathogenic (PVS1). The p.Pro63Alafs variant in FOXG1 has been reported as a de novo occurrence (biological parentage confirmed) in an individual with FOXG1-associated disorder (Internal database - GeneDx) (PS2). The p.Pro63Alafs variant in FOXG1 is absent from gnomAD (PM2_supporting). In summary, the p.Pro63Alafs variant in FOXG1 is classified as Pathogenic for FOXG1-associated disorder based on the ACMG/AMP criteria (PVS1, PS2, PM2_supporting).

PS2

The c.177_186dup variant in FOXG1 has been reported as a confirmed de novo occurrence in a individual with a FOXG1-related disorder (Internal database - GeneDx )

PVS1

The c.177_186dup variant in FOXG1 is predicted to cause a premature stop codon that leads to a truncated or absent protein in a gene where loss-of-function is an established mechanism.

PM2_Supporting

The c.177_186dup variant in FOXG1 is absent from gnomAD.

Approved on: 2021-03-26

Published on: 2021-05-17

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