The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

Variant: NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)

CA314588

205474 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
UUID: 19e24439-dc92-487e-996e-15f701bd41d8
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_005249.5:c.503G>C
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)
NC_000014.9:g.28767782G>C
CM000676.2:g.28767782G>C
NC_000014.8:g.29236988G>C
CM000676.1:g.29236988G>C
NC_000014.7:g.28306739G>C
NG_009367.1:g.5702G>C
ENST00000313071.7:c.503G>C
ENST00000313071.6:c.503G>C
NM_005249.4:c.503G>C
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Benign

Met criteria codes 2
BA1 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.Gly168Ala variant in FOXG1 is 0.18% in African 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). Computational analysis prediction tools suggest that the p.Gly168Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly168Ala variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP4).
Met criteria codes
BA1
The allele frequency of the p.Gly168Ala variant in FOXG1 is 0.18% in African 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.
BP4
Computational analysis prediction tools suggest that the p.Gly168Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own
Curation History
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