The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No CSPEC related information was provided by the message!

  • See Evidence submitted by expert panel for details.

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

Likely Benign

Met criteria codes 4
BS2_Supporting PM2_Supporting BP5 BP4

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
BS2_Supporting
The p.Ala92Val variant is observed in at least 1 unaffected individuals (internal database - Invitae) (BS2_supporting).
PM2_Supporting
The p.Ala92Val variant in FOXG1 is absent from gnomAD (PM2_supporting).
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).
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.
¤ Powered by BCM's Genboree.