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.471G>T (p.Lys157Asn)

CA222858

95269 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: d79c60d3-c0b5-4e4a-9eaa-280f51640a02
Approved on: 2022-09-01
Published on: 2022-09-06

HGVS expressions

NM_005249.5:c.471G>T
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
NC_000014.9:g.28767750G>T
CM000676.2:g.28767750G>T
NC_000014.8:g.29236956G>T
CM000676.1:g.29236956G>T
NC_000014.7:g.28306707G>T
NG_009367.1:g.5670G>T
ENST00000313071.7:c.471G>T
ENST00000313071.6:c.471G>T
NM_005249.4:c.471G>T
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Likely Benign

Met criteria codes 2
BS2 BP4
Not Met criteria codes 3
BS1 BA1 PM2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Lys157Asn variant in FOXG1 is present in 2 individuals in gnomAD (0.001%) (not sufficient to meet BS1 criteria). The p.Lys157Asn variant is observed in at least 2 unaffected individuals (internal database) (BS2). Computational analysis prediction tools suggest that the p.Lys157Asn variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Lys157Asn variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4).
Met criteria codes
BS2
The p.Lys157Asn variant is observed in at least 2 unaffected individuals (internal database)
BP4
Computational analysis prediction tools suggest that the p.Lys157Asn variant does not have a deleterious impact; however this information does not predict clinical significance on its own
Not Met criteria codes
BS1
The p.Lys157Asn variant in FOXG1 is present in 2 individuals in gnomAD (0.001%) (not sufficient to meet BS1 criteria).
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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