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NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) AND FOXG1 disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 13, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003448278.2

Allele description [Variation Report for NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)]

NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)

Gene:
FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)
Other names:
NM_005249.5(FOXG1):c.218A>C
HGVS:
  • NC_000014.9:g.28767497A>C
  • NG_009367.1:g.5417A>C
  • NM_005249.5:c.218A>CMANE SELECT
  • NP_005240.3:p.Gln73Pro
  • NC_000014.8:g.29236703A>C
  • NM_005249.3:c.218A>C
  • NM_005249.4:c.218A>C
Protein change:
Q73P
Links:
dbSNP: rs760663911
NCBI 1000 Genomes Browser:
rs760663911
Molecular consequence:
  • NM_005249.5:c.218A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
FOXG1 disorder
Identifiers:
MONDO: MONDO:0100040; MedGen: CN297063

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004175927ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel
reviewed by expert panel

(ClinGen RettAS ACMG Specifications FOXG1 V3.0.0)		Benign
(Oct 13, 2023) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, SCV004175927.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The allele frequency of the p.Gln73Pro variant in FOXG1 is 0.027% in the European (non-Finnish) 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.Gln73Pro variant is observed in at least 50 unaffected individuals (internal database - GeneDx) (BS2). The p.Gln73Pro variant is found in at least 8 individuals with an alternate molecular basis of disease (internal database - Invitae, internal database - GeneDx) (BP5_Strong). Computational analysis prediction tools suggest that the p.Gln73Pro variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gln73Pro variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_Strong, BP4).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024