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.1384A>G (p.Ser462Gly)

CA208363

211031 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 6d8dd3d0-b7a2-4f73-bcf3-74afab6d9411
Approved on: 2024-02-23
Published on: 2024-07-01

HGVS expressions

NM_005249.5:c.1384A>G
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly)
NC_000014.9:g.28768663A>G
CM000676.2:g.28768663A>G
NC_000014.8:g.29237869A>G
CM000676.1:g.29237869A>G
NC_000014.7:g.28307620A>G
NG_009367.1:g.6583A>G
ENST00000706482.1:c.1384A>G
ENST00000313071.7:c.1384A>G
ENST00000313071.6:c.1384A>G
NM_005249.4:c.1384A>G
More

Benign

Met criteria codes 2
BA1 BP5
Not Met criteria codes 2
BP4 PP3

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.Ser462Gly variant in FOXG1 is 0.147% in South Asian sub population in gnomAD v2, 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 Ser462Gly variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). In summary, the p.Ser462Gly variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP5).
Met criteria codes
BA1
The allele frequency of the p.Ser462Gly variant in FOXG1 is 0.147% in South Asian sub population in gnomAD v2, 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).
BP5
The Ser462Gly variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5).
Not Met criteria codes
BP4
Computational prediction analysis tools are inconclusive for this variant (no criteria met).
PP3
Computational prediction analysis tools are inconclusive for this variant (no criteria met).
Curation History
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