NM_005249.5(FOXG1):c.436G>T (p.Glu146Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 21, 2017
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:: RCV000497737.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.436G>T (p.Glu146Ter)]

NM_005249.5(FOXG1):c.436G>T (p.Glu146Ter)

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.436G>T (p.Glu146Ter)

HGVS:

NC_000014.9:g.28767715G>T
NG_009367.1:g.5635G>T
NM_005249.5:c.436G>TMANE SELECT
NP_005240.3:p.Glu146Ter
NC_000014.8:g.29236921G>T
NM_005249.3:c.436G>T

Protein change:

E146*

Links:

dbSNP: rs1555321279

NCBI 1000 Genomes Browser:

rs1555321279

Molecular consequence:

NM_005249.5:c.436G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000590325	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000590325

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 21, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000590325.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The E146X nonsense variant in the FOXG1 gene is predicted to cause loss of normal protein function through protein truncation as the last 344 amino acids of the FOXG1 protein are lost.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

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