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]
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Variant: NM_005249.5(FOXG1):c.344C>T (p.Ala115Val)

CA314580

205470 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 812b4dd0-2dae-4627-a399-59c69f143022
Approved on: 2024-02-23
Published on: 2024-07-01

HGVS expressions

NM_005249.5:c.344C>T
NM_005249.5(FOXG1):c.344C>T (p.Ala115Val)
NC_000014.9:g.28767623C>T
CM000676.2:g.28767623C>T
NC_000014.8:g.29236829C>T
CM000676.1:g.29236829C>T
NC_000014.7:g.28306580C>T
NG_009367.1:g.5543C>T
ENST00000706482.1:c.344C>T
ENST00000313071.7:c.344C>T
ENST00000313071.6:c.344C>T
NM_005249.4:c.344C>T

Benign

Met criteria codes 4
BA1 BS2 BP5 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 allele frequency of the p.Ala115Val variant in FOXG1 is 0.061% 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). Computational analysis prediction tools suggest that the p.Ala115Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Ala115Val variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The p.Ala115Val variant is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5). In summary, the p.Ala115Val variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP4, BS2, BP5).
Met criteria codes
BA1
The allele frequency of the p.Ala115Val variant in FOXG1 is 0.061% 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).
BS2
The p.Ala115Val variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2).
BP5
The p.Ala115Val variant is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5).
BP4
Computational analysis prediction tools suggest that the p.Ala115Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).
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