Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)

CA314578

205469 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 11a2d8c8-1cfe-43af-8c76-f5f3a5562e42
Approved on: 2024-08-30
Published on: 2024-12-13

HGVS expressions

NM_005249.5:c.245C>A
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)
NC_000014.9:g.28767524C>A
CM000676.2:g.28767524C>A
NC_000014.8:g.29236730C>A
CM000676.1:g.29236730C>A
NC_000014.7:g.28306481C>A
NG_009367.1:g.5444C>A
ENST00000706482.1:c.245C>A
ENST00000313071.7:c.245C>A
ENST00000313071.6:c.245C>A
NM_005249.4:c.245C>A
More

Benign

Met criteria codes 4
BA1 BP5_Strong BS2 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 3.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The highest population minor allele frequency of the p.Pro82Gln variant in FOXG1 in gnomAD v2.1.1 is 0.00087 in the African/African American population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.0003) for BA1, and therefore meets this criterion (BA1). The p.Pro82Gln variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The p.Pro82Gln variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx) (BP5_Strong). Computational analysis prediction tools suggest that the p.Pro82Gln variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Pro82Gln variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP5_Strong, BP4). (FOXG1 specification v.3; approved on 8/30/2024)
Met criteria codes
BA1
The highest population minor allele frequency of the p.Pro82Gln variant in FOXG1 in gnomAD v2.1.1 is 0.00087 in the African/African American population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.0003) for BA1, and therefore meets this criterion (BA1).
BP5_Strong
The p.Pro82Gln variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx) (BP5_Strong).
BS2
The p.Pro82Gln variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2).
BP4
Computational analysis prediction tools suggest that the p.Pro82Gln variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).
Curation History
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