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NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 13, 2022
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:
RCV000170071.3

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222381RettBASE
no assertion criteria provided
Pathogenic
(Jun 12, 2013) 		de novocuration

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

SCV002601335GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 13, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedde novoyes1not providednot provided1Nocuration

Citations

PubMed

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F.

Clin Genet. 2012 Oct;82(4):395-403. doi: 10.1111/j.1399-0004.2011.01810.x. Epub 2011 Dec 13.

PubMed [citation]
PMID:
22091895

Details of each submission

From RettBASE, SCV000222381.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedNocuration PubMed (1)

Description

"Not Rett synd."

PubMed [ID: 22091895]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1bloodnot provided1not providednot providednot provided

From GeneDx, SCV002601335.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22091895, 26344814)

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

Last Updated: Jun 17, 2024