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 computer assertion could be determined for this classification!

Variant: NM_005249.5(FOXG1):c.594C>G (p.Pro198=)

CA314590

205475 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 0f906b2b-216b-4d3c-a9d8-4b4910b2cc41
Approved on: 2024-04-18
Published on: 2024-07-01

HGVS expressions

NM_005249.5:c.594C>G
NM_005249.5(FOXG1):c.594C>G (p.Pro198=)
NC_000014.9:g.28767873C>G
CM000676.2:g.28767873C>G
NC_000014.8:g.29237079C>G
CM000676.1:g.29237079C>G
NC_000014.7:g.28306830C>G
NG_009367.1:g.5793C>G
ENST00000706482.1:c.594C>G
ENST00000313071.7:c.594C>G
ENST00000313071.6:c.594C>G
NM_005249.4:c.594C>G
More

Benign

Met criteria codes 3
BP5_Strong BA1 BS2
Not Met criteria codes 1
PM1

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 allele frequency of the p.Pro198= variant in FOXG1 is 0.04% in African sub population in gnomAD v2.1.1, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Pro198= variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Pro198= variant is found in at least 3 patients with an alternate molecular basis of disease (GeneDx internal database) (BP5_strong). The p.Pro198= variant occurs in the well-characterized Forkhead functional domain of the FOXG1 gene; however, as this is a synonymous change, there would be no affect on the amino acid sequence of the functional domain (PM1 not met). In summary, the p.Pro198= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP5_strong).
Met criteria codes
BP5_Strong
The p.Pro198= variant is found in at least 3 patients with an alternate molecular basis of disease (GeneDx internal database) (BP5_strong).
BA1
The allele frequency of the p.Pro198= variant in FOXG1 is 0.04% in African sub population in gnomAD v2.1.1, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
BS2
The p.Pro198= variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2).
Not Met criteria codes
PM1
The p.Pro198= variant occurs in the well-characterized Forkhead functional domain of the FOXG1 gene; however, as this is a synonymous change, there would be no affect on the amino acid sequence of the functional domain (PM1 does not apply).
Curation History
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