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.209A>C (p.Gln70Pro)

CA294776

158591 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 6f038a80-afb7-44bc-a28f-cc16c0c3259a
Approved on: 2024-06-25
Published on: 2024-08-23

HGVS expressions

NM_005249.5:c.209A>C
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)
NC_000014.9:g.28767488A>C
CM000676.2:g.28767488A>C
NC_000014.8:g.29236694A>C
CM000676.1:g.29236694A>C
NC_000014.7:g.28306445A>C
NG_009367.1:g.5408A>C
ENST00000706482.1:c.209A>C
ENST00000313071.7:c.209A>C
ENST00000313071.6:c.209A>C
NM_005249.4:c.209A>C
More

Benign

Met criteria codes 3
BS2 BP4 BA1

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.Gln70Pro variant in FOXG1 in gnomAD v4.1 is 0.00033 in the Admixed 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.Gln70Pro variant is observed in at least 2 unaffected individuals (Internal database - Ambry) (BS2). Computational analysis prediction tools suggest that the p.Gln70Pro variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gln70Pro variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP4).
Met criteria codes
BS2
The p.Gln70Pro variant is observed in at least 2 unaffected individuals (Internal database - Ambry) (BS2).
BP4
Computational analysis prediction tools suggest that the p.Gln70Pro variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).
BA1
The highest population minor allele frequency of the p.Gln70Pro variant in FOXG1 in gnomAD v4.1 is 0.00033 in the Admixed 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).
Curation History
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