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.141CCA[4] (p.His55_His57del)

CA314564

205462 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 88c8661e-5356-4d79-8b36-7bb37cff0b3e
Approved on: 2024-06-25
Published on: 2024-08-23

HGVS expressions

NM_005249.5:c.141CCA[4]
NM_005249.5(FOXG1):c.141CCA[4] (p.His55_His57del)
NC_000014.9:g.28767432_28767440del
CM000676.2:g.28767432_28767440del
NC_000014.8:g.29236638_29236646del
CM000676.1:g.29236638_29236646del
NC_000014.7:g.28306389_28306397del
NG_009367.1:g.5352_5360del
ENST00000706482.1:c.153_161del
ENST00000313071.7:c.153_161del
ENST00000313071.6:c.153_161del
NM_005249.4:c.153_161del
NM_005249.5:c.153_161del

Benign

Met criteria codes 3
BS1 BS2 BP3

Evidence Links 0

Expert Panel

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 highest population minor allele frequency of the c.153_161del (p.His55_His57del) variant in FOXG1 in gnomAD v4.1 is 0.00023 in the Middle Eastern population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1). The p.His55_His57del variant is observed in at least 2 unaffected individuals (Internal database - Invitae, Internal database - GeneDx) (BS2). The p.His55_His57del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3). In summary, the p.His55_His57del variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP3).
Met criteria codes
BS1
The highest population minor allele frequency of the c.153_161del (p.His55_His57del) variant in FOXG1 in gnomAD v4.1 is 0.00023 in the Middle Eastern population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1).
BS2
The p.His55_His57del variant is observed in at least 2 unaffected individuals (Internal database – Invitae, Internal database - GeneDx) (BS2).
BP3
The p.His55_His57del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3).
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