U.S. flag

An official website of the United States government

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
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

Help

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: Aug 4, 2024