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.1323C>T (p.Ser441=)

Curation Version - 1.0
Curation History
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CA290951

137392 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 35026cda-9fd7-4d8d-b68a-71389719d5da

Approved on: 2022-02-18

Published on: 2022-06-30

HGVS expressions

NM_005249.5:c.1323C>T

NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)

NC_000014.9:g.28768602C>T

CM000676.2:g.28768602C>T

NC_000014.8:g.29237808C>T

CM000676.1:g.29237808C>T

NC_000014.7:g.28307559C>T

NG_009367.1:g.6522C>T

ENST00000313071.7:c.1323C>T

ENST00000313071.6:c.1323C>T

NM_005249.4:c.1323C>T

Benign

BA1

BP7

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.Ser441= variant in FOXG1 has an allele frequency of 0.049% in the South Asian sub population in gnomAD, 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). In summary, the p.Ser441= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1).

BA1

The c.1323C>T (p.Ser441=) variant in FOXG1 has an allele frequency of 0.049% in the South Asian sub population in gnomAD, 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).

BP7

The silent p.Ser441= variant is not predicted to affect splicing using multiple computational tools. But it is at a highly conserved nucleotide.

Curation History

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