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.503G>T (p.Gly168Val)

CA314606

205483 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: ff6d1f65-4ebf-4bf4-9de2-0cfd9a81b9d8
Approved on: 2024-06-25
Published on: 2024-08-23

HGVS expressions

NM_005249.5:c.503G>T
NM_005249.5(FOXG1):c.503G>T (p.Gly168Val)
NC_000014.9:g.28767782G>T
CM000676.2:g.28767782G>T
NC_000014.8:g.29236988G>T
CM000676.1:g.29236988G>T
NC_000014.7:g.28306739G>T
NG_009367.1:g.5702G>T
ENST00000706482.1:c.503G>T
ENST00000313071.7:c.503G>T
ENST00000313071.6:c.503G>T
NM_005249.4:c.503G>T
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Uncertain Significance

Met criteria codes 1
BS2_Supporting
Not Met criteria codes 4
PP3 PM2 BS1 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.Gly168Val variant in FOXG1 in gnomAD v4.1 is 0.000018 in the European (Finnish) population (not sufficient to meet BS1 criteria). The p.Gly168Val variant is observed in at least 1 unaffected individual (Internal database - Ambry) (BS2_Supporting). Computational prediction analysis tools are inconclusive for this variant (no criteria met). In summary, the p.Gly168Val variant in FOXG1 is classified as a variant of unknown significance based on the ACMG/AMP criteria (BS2_Supporting).
Met criteria codes
BS2_Supporting
The p.Gly168Val variant is observed in at least 1 unaffected individual (Internal database - Ambry).
Not Met criteria codes
PP3
Computational prediction analysis tools are inconclusive for this variant.
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
The highest population minor allele frequency of the p.Gly168Val variant in FOXG1 in gnomAD v4.1 is 0.000018 in the Finnish population (not sufficient to meet BS1 criteria).
BP4
Computational prediction analysis tools are inconclusive for this variant.
Curation History
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