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Variant: NM_005249.5(FOXG1):c.275C>T (p.Ala92Val)

CA16603285

377165 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
UUID: 9c82a969-2a93-4390-a767-b97c00b04e15
Approved on: 2023-10-13
Published on: 2023-12-08

HGVS expressions

NM_005249.5:c.275C>T
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val)
NC_000014.9:g.28767554C>T
CM000676.2:g.28767554C>T
NC_000014.8:g.29236760C>T
CM000676.1:g.29236760C>T
NC_000014.7:g.28306511C>T
NG_009367.1:g.5474C>T
ENST00000313071.7:c.275C>T
ENST00000313071.6:c.275C>T
NM_005249.4:c.275C>T
More

Likely Benign

Met criteria codes 4
BP5 BP4 PM2_Supporting BS2_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Ala92Val variant in FOXG1 is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). The p.Ala92Val variant is found in at least 2 patients with an alternate molecular basis of disease (internal database - Invitae) (BP5). Computational analysis prediction tools suggest that the p.Ala92Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Ala92Val variant in FOXG1 is absent from gnomAD (PM2_supporting). In the absence of other pathogenic evidence beyond PM2_Supporting, and because this variant has been observed in 1 unaffected individual and 2 individuals with an alternate molecular diagnosis, the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel has agreed to overrule the PM2_Supporting criterion and classified this variant as Likely Benign (BS2_supporting, BP4, BP5).
Met criteria codes
BP5
The p.Ala92Val variant is found in at least two patients with an alternate molecular basis of disease (internal database - Invitae) (BP5).
BP4
Computational analysis prediction tools suggest that the p.Ala92Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).
PM2_Supporting
The p.Ala92Val variant in FOXG1 is absent from gnomAD (PM2_supporting).
BS2_Supporting
The p.Ala92Val variant is observed in at least 1 unaffected individuals (internal database - Invitae) (BS2_supporting).
Curation History
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