NM_005249.5(FOXG1):c.265_266dup (p.Ala92fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 29, 2018
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:: RCV001008457.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.265_266dup (p.Ala92fs)]

NM_005249.5(FOXG1):c.265_266dup (p.Ala92fs)

Gene:

FOXG1:forkhead box G1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_005249.5(FOXG1):c.265_266dup (p.Ala92fs)

HGVS:

NC_000014.9:g.28767544_28767545dup
NG_009367.1:g.5464_5465dup
NM_005249.5:c.265_266dupMANE SELECT
NP_005240.3:p.Ala92fs
NC_000014.8:g.29236750_29236751dup
NM_005249.3:c.265_266dupGG

Protein change:

A92fs

Links:

dbSNP: rs1594383151

NCBI 1000 Genomes Browser:

rs1594383151

Molecular consequence:

NM_005249.5:c.265_266dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001168228	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Nov 29, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168228

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Nov 29, 2018)

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, SCV001168228.1

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

Description

A variant that is likely pathogenic has been identified in the FOXG1 gene. The c.265_266dupGG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.265_266dupGG variant in the FOXG1 gene causes a frameshift starting with codon Alanine 92, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 101 of the new reading frame, denoted p.Ala92ArgfsX101. This frameshift variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

#	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

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