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]

Link to SEPIO compliant JSON-LD document

Variant: NM_005249.5(FOXG1):c.256C>A (p.Gln86Lys)

CA222854

95266 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: cd3680b4-a362-4955-99fe-a018395e611e

Approved on: 2022-09-01

Published on: 2022-09-06

HGVS expressions

NM_005249.5:c.256C>A

NM_005249.5(FOXG1):c.256C>A (p.Gln86Lys)

NC_000014.9:g.28767535C>A

CM000676.2:g.28767535C>A

NC_000014.8:g.29236741C>A

CM000676.1:g.29236741C>A

NC_000014.7:g.28306492C>A

NG_009367.1:g.5455C>A

ENST00000313071.7:c.256C>A

ENST00000313071.6:c.256C>A

NM_005249.4:c.256C>A

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Conflicting Evidence"

PM2 BS2 BP4

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Gln86Lys variant is observed in at least 2 unaffected individuals (internal database) (BS2). Computational analysis prediction tools suggest that the p.Gln86Lys variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Gln86Lys variant in FOXG1 is absent from gnomAD (PM2_Supporting). In summary, this variant meets the criteria to be classified as likely benign. Although there are both pathogenic and benign types of evidence for this variant, the pathogenic evidence is not considered inconsistent with the final classification. ACMG/AMP criteria applied, as specified by the ClinGen Rett/Angelman-like expert panel: BS2, BP4 (approved 8/25/22).

PM2

The p.Gln86Lys variant in FOXG1 is absent from gnomAD

BS2

The p.Gln86Lys variant is observed in at least 2 unaffected individuals (internal database)

BP4

Computational analysis prediction tools suggest that the p.Gln86Lys variant does not have a deleterious impact; however this information does not predict clinical significance on its own

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