NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 3, 2016
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:: RCV000408856.1

Allele description [Variation Report for NM_023067.4(FOXL2):c.748_749del (p.Gly250fs)]

NM_023067.4(FOXL2):c.748_749del (p.Gly250fs)

Gene:

FOXL2:forkhead box L2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q22.3

Genomic location:

Preferred name:

NM_023067.4(FOXL2):c.748_749del (p.Gly250fs)

HGVS:

NC_000003.12:g.138945975_138945976del
NG_012454.1:g.6166_6167del
NG_029796.1:g.3742_3743del
NM_023067.4:c.748_749delMANE SELECT
NP_075555.1:p.Gly250fs
LRG_1295t1:c.748_749del
LRG_1295:g.6166_6167del
LRG_1295p1:p.Gly250fs
NC_000003.11:g.138664817_138664818del
NM_023067.3:c.748_749delGG
p.[Gly250Profs*283]

Protein change:

G250fs

Links:

dbSNP: rs1057516175

NCBI 1000 Genomes Browser:

rs1057516175

Molecular consequence:

NM_023067.4:c.748_749del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Blepharophimosis, ptosis, and epicanthus inversus syndrome
Synonyms:: Blepharophimosis, ptosis, and epicanthus inversus
Identifiers:: MONDO: MONDO:0007201; MedGen: C0220663; Orphanet: 126; OMIM: 110100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484888	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Pathogenic (Nov 3, 2016)	germline	clinical testing	DGD_Variant_Analysis_Guidelines.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000484888

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Pathogenic
(Nov 3, 2016)

germline

clinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000484888.1

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

Last Updated: Apr 23, 2022

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