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NM_005249.5(FOXG1):c.689G>A (p.Arg230His) AND FOXG1 disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 24, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004558430.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.689G>A (p.Arg230His)]

NM_005249.5(FOXG1):c.689G>A (p.Arg230His)

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.689G>A (p.Arg230His)
Other names:
NM_005249.5(FOXG1):c.689G>A; p.Arg230His
HGVS:
  • NC_000014.9:g.28767968G>A
  • NG_009367.1:g.5888G>A
  • NM_005249.5:c.689G>AMANE SELECT
  • NP_005240.3:p.Arg230His
  • NC_000014.8:g.29237174G>A
  • NM_005249.4:c.689G>A
Protein change:
R230H
Links:
dbSNP: rs786205007
NCBI 1000 Genomes Browser:
rs786205007
Molecular consequence:
  • NM_005249.5:c.689G>A - 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
SCV005046868Centre for Population Genomics, CPG
criteria provided, single submitter

(McKnight et al. (Hum Mutat. 2022))		Likely pathogenic
(May 24, 2024) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.

McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S.

Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2.

PubMed [citation]
PMID:
34837432
PMCID:
PMC9135956

Details of each submission

From Centre for Population Genomics, CPG, SCV005046868.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely pathogenic. At least the following criteria are met: Occurs in the well-characterized Forkhead functional domain of FOXG1 (PM1). This variant has been identified as a de novo occurrence in an individual with FOXG1 disorder without confirmation of paternity and maternity (PM6, PMID: 22129046). Computational prediction analysis tools suggests a deleterious impact (REVEL score>= 0.75) (PP3). This variant is absent from gnomAD (PM2_Supporting).

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

Last Updated: Feb 16, 2025