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.977G>A (p.Ser326Asn)

CA7140642

426291 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: a79d4c23-1e44-4bc2-b0ab-4ac70d055a4f
Approved on: 2023-08-23
Published on: 2023-09-15

HGVS expressions

NM_005249.5:c.977G>A
NM_005249.5(FOXG1):c.977G>A (p.Ser326Asn)
NC_000014.9:g.28768256G>A
CM000676.2:g.28768256G>A
NC_000014.8:g.29237462G>A
CM000676.1:g.29237462G>A
NC_000014.7:g.28307213G>A
NG_009367.1:g.6176G>A
ENST00000313071.7:c.977G>A
ENST00000313071.6:c.977G>A
NM_005249.4:c.977G>A
More

Likely Benign

Met criteria codes 2
BS2_Supporting BS1
Not Met criteria codes 4
PP3 BA1 PM2 BP4

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 allele frequency of the p.Ser326Asn variant in FOXG1 is 0.023% in South Asian sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Ser326Asn variant is observed in at least 1 unaffected individuals (internal database) (BS2_Supporting). In summary, the p.Ser326Asn variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS1, BS2_Supporting).
Met criteria codes
BS2_Supporting
The p.Ser326Asn variant is observed in at least 1 unaffected individuals (internal database) (BS2_Supporting).
BS1
The allele frequency of the p.Ser326Asn variant in FOXG1 is 0.023% in South Asian sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1).
Not Met criteria codes
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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