NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 1, 2017
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:: RCV000408883.3

Allele description [Variation Report for NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup)]

NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3q22.3

Genomic location:

Preferred name:

NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup)

HGVS:

NC_000003.12:g.138946034_138946063dup
NG_012454.1:g.6081_6110dup
NG_029796.1:g.3801_3830dup
NM_023067.4:c.663_692dupMANE SELECT
NP_075555.1:p.Ala225_Ala234dup
LRG_1295t1:c.663_692dup
LRG_1295:g.6081_6110dup
LRG_1295p1:p.Ala225_Ala234dup
NC_000003.11:g.138664872_138664873insGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC
NC_000003.11:g.138664876_138664905dup
NM_023067.3:c.663_692dup30
p.(Ala225_Ala234dup)
p.[Ala225_Ala234dup]

Links:

dbSNP: rs764243782

NCBI 1000 Genomes Browser:

rs764243782

Molecular consequence:

NM_023067.4:c.663_692dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484883	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,
SCV000924429	Wessex Regional Genetics Laboratory, Salisbury District Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000484883

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,

SCV000924429

Wessex Regional Genetics Laboratory, Salisbury District Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2017)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	12	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	yes	2	not provided	not provided	2	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000484883.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	12	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		12	not provided	not provided	not provided

From Wessex Regional Genetics Laboratory, Salisbury District Hospital, SCV000924429.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine