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NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) AND FOXG1 disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 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:
RCV004558423.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter)]

NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter)

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.136C>T (p.Gln46Ter)
Other names:
NM_005249.5(FOXG1):c.136C>T; p.Gln46Ter
HGVS:
  • NC_000014.9:g.28767415C>T
  • NG_009367.1:g.5335C>T
  • NM_005249.5:c.136C>TMANE SELECT
  • NP_005240.3:p.Gln46Ter
  • NC_000014.8:g.29236621C>T
  • NM_005249.3:c.136C>T
  • NM_005249.4:c.136C>T
Protein change:
Q46*
Links:
dbSNP: rs786205000
NCBI 1000 Genomes Browser:
rs786205000
Molecular consequence:
  • NM_005249.5:c.136C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005046889Centre for Population Genomics, CPG
criteria provided, single submitter

(McKnight et al. (Hum Mutat. 2022))		Pathogenic
(May 10, 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, SCV005046889.1

#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 pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). Has been observed in at least 2 individuals with phenotypes consistent with FOXG1 disorder (PS4_Supporting). PMID:22091895 , PMID:26344814 , PMID:28661489 This variant is absent from gnomAD v4 (PM2_Supporting).

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

Last Updated: Jun 17, 2024