NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jul 17, 2023
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:: RCV000408801.3

Allele description [Variation Report for NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)]

NM_023067.4(FOXL2):c.672_701dup (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.672_701dup (p.Ala225_Ala234dup)

HGVS:

NC_000003.12:g.138946030_138946059dup
NG_012454.1:g.6090_6119dup
NG_029796.1:g.3797_3826dup
NM_023067.4:c.672_701dupMANE SELECT
NP_075555.1:p.Ala225_Ala234dup
LRG_1295t1:c.672_701dup
LRG_1295:g.6090_6119dup
LRG_1295p1:p.Ala225_Ala234dup
NC_000003.11:g.138664863_138664864insGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT
NC_000003.11:g.138664872_138664901dup
NM_023067.3:c.672_701dup30
p.(Ala225_Ala234dup)
p.[Ala225_Ala234dup]

Links:

OMIM: 605597.0002; dbSNP: rs387906321

NCBI 1000 Genomes Browser:

rs387906321

Molecular consequence:

NM_023067.4:c.672_701dup - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484884	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,
SCV000924431	Wessex Regional Genetics Laboratory, Salisbury District Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2019)	paternal, inherited, de novo, unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004027630	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 17, 2023)	unknown	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

SCV000484884

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,

SCV000924431

Wessex Regional Genetics Laboratory, Salisbury District Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2019)

paternal, inherited, de novo, unknown

clinical testing

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

SCV004027630

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 17, 2023)

unknown

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	paternal	yes	2	not provided	not provided	2	not provided	clinical testing
not provided	germline	yes	28	not provided	not provided	not provided	not provided	clinical testing
not provided	inherited	yes	6	not provided	not provided	6	not provided	clinical testing
not provided	unknown	yes	16	not provided	not provided	16	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, SCV000484884.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	28	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		28	not provided	not provided	not provided

From Wessex Regional Genetics Laboratory, Salisbury District Hospital, SCV000924431.1

#	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)
3	not provided	1	not provided	not provided	clinical testing	PubMed (1)
4	not provided	1	not provided	not provided	clinical testing	PubMed (1)
5	not provided	1	not provided	not provided	clinical testing	PubMed (1)
6	not provided	1	not provided	not provided	clinical testing	PubMed (1)
7	not provided	1	not provided	not provided	clinical testing	PubMed (1)
8	not provided	1	not provided	not provided	clinical testing	PubMed (1)
9	not provided	1	not provided	not provided	clinical testing	PubMed (1)
10	not provided	1	not provided	not provided	clinical testing	PubMed (1)
11	not provided	1	not provided	not provided	clinical testing	PubMed (1)
12	not provided	1	not provided	not provided	clinical testing	PubMed (1)
13	not provided	1	not provided	not provided	clinical testing	PubMed (1)
14	not provided	1	not provided	not provided	clinical testing	PubMed (1)
15	not provided	1	not provided	not provided	clinical testing	PubMed (1)
16	not provided	1	not provided	not provided	clinical testing	PubMed (1)
17	not provided	1	not provided	not provided	clinical testing	PubMed (1)
18	not provided	1	not provided	not provided	clinical testing	PubMed (1)
19	not provided	1	not provided	not provided	clinical testing	PubMed (1)
20	not provided	1	not provided	not provided	clinical testing	PubMed (1)
21	not provided	1	not provided	not provided	clinical testing	PubMed (1)
22	not provided	1	not provided	not provided	clinical testing	PubMed (1)
23	not provided	1	not provided	not provided	clinical testing	PubMed (1)
24	not provided	1	not provided	not provided	clinical testing	PubMed (1)
25	not provided	1	not provided	not provided	clinical testing	PubMed (1)
26	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	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	inherited	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided
4	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
5	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
6	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
7	inherited	yes	1	not provided	not provided		1	not provided	not provided	not provided
8	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
9	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
10	paternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
11	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
12	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
13	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
14	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
15	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
16	inherited	yes	1	not provided	not provided		1	not provided	not provided	not provided
17	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
18	inherited	yes	1	not provided	not provided		1	not provided	not provided	not provided
19	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
20	paternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
21	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
22	inherited	yes	1	not provided	not provided		1	not provided	not provided	not provided
23	inherited	yes	1	not provided	not provided		1	not provided	not provided	not provided
24	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
25	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided
26	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004027630.1

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

Description

Criteria applied: PS4,PP1_STR,PM4,PM2_SUP,PP4

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

Last Updated: May 7, 2024

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