NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jul 22, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000187442.5

Allele description [Variation Report for NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup)]

NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup)

HGVS:

NC_000014.9:g.28767665_28767676dup
NG_009367.1:g.5585_5596dup
NM_005249.5:c.386_397dupMANE SELECT
NP_005240.3:p.Glu129_Gly132dup
NC_000014.8:g.29236866_29236867insGGCGAGCCGGGC
NC_000014.8:g.29236871_29236882dup
NM_005249.3:c.386_397dupAGCCGGGCGGCG
p.E129_G132dup

Links:

dbSNP: rs796052456

NCBI 1000 Genomes Browser:

rs796052456

Molecular consequence:

NM_005249.5:c.386_397dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000241034	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Nov 17, 2014)	germline	clinical testing	Citation Link,
SCV000343869	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Likely benign (Jul 22, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000241034

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Nov 17, 2014)

germline

clinical testing

Citation Link,

SCV000343869

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Likely benign
(Jul 22, 2016)

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
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000241034.3

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

Description

The variant is found in INFANT-EPI panel(s).

#	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

From Eurofins Ntd Llc (ga), SCV000343869.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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