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]

Variant: NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA222856

95267 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 5120b4ba-ddba-47f1-9bb2-a77bbfaac4dc

Approved on: 2022-09-01

Published on: 2022-09-06

HGVS expressions

NM_005249.5:c.326C>T

NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)

NC_000014.9:g.28767605C>T

CM000676.2:g.28767605C>T

NC_000014.8:g.29236811C>T

CM000676.1:g.29236811C>T

NC_000014.7:g.28306562C>T

NG_009367.1:g.5525C>T

ENST00000313071.7:c.326C>T

ENST00000313071.6:c.326C>T

NM_005249.4:c.326C>T

Likely Benign

BS2 BP5 BP4

PM2

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.Pro109Leu variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Pro109Leu variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). Computational analysis prediction tools suggest that the p.Pro109Leu variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). This position in gnomAD does not have at least 2,000 observed alleles in any continental population dataset (not sufficient to meet any population frequency criteria). In summary, the p.Pro109Leu variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4, BP5).

BS2

The p.Pro109Leu variant is observed in at least 2 unaffected individuals (internal database)

BP5

The p.Pro109Leu variant is found in a patient with an alternate molecular basis of disease (internal database)

BP4

Computational analysis prediction tools suggest that the p.Pro109Leu variant does not have a deleterious impact; however this information does not predict clinical significance on its own

PM2

This position in gnomAD does not have at least 2,000 observed alleles in any continental population dataset (not sufficient to meet any population frequency criteria).

Curation History

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