Evidence Repository - Clinical Genome Resources

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.1045T>G (p.Ser349Ala)

CA314631

205497 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: b54c7f7e-9769-4371-bdd5-092b6a28f551

Approved on: 2024-04-18

Published on: 2024-07-01

HGVS expressions

NM_005249.5:c.1045T>G

NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala)

NC_000014.9:g.28768324T>G

CM000676.2:g.28768324T>G

NC_000014.8:g.29237530T>G

CM000676.1:g.29237530T>G

NC_000014.7:g.28307281T>G

NG_009367.1:g.6244T>G

ENST00000706482.1:c.1045T>G

ENST00000313071.7:c.1045T>G

ENST00000313071.6:c.1045T>G

NM_005249.4:c.1045T>G

Likely Benign

BS2 BP5

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

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 p.Ser349Ala variant in FOXG1 is present in one XX and three XY individuals in gnomAD v2.1.1 (0.001418%) (not sufficient to meet BS1 criteria). The p.Ser349Ala variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Ser349Ala variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database) (BP5). In summary, the p.Ser349Ala variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).

BS2

The p.Ser349Ala variant is observed in at least 2 unaffected individuals (internal database).

BP5

The p.Ser349Ala variant is found in a patient with an alternate molecular basis of disease (internal database).

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