NM_023067.4(FOXL2):c.855_871dup (p.His291fs) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Apr 18, 2024
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:: RCV000192040.5

Allele description [Variation Report for NM_023067.4(FOXL2):c.855_871dup (p.His291fs)]

NM_023067.4(FOXL2):c.855_871dup (p.His291fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3q22.3

Genomic location:

Preferred name:

NM_023067.4(FOXL2):c.855_871dup (p.His291fs)

HGVS:

NC_000003.12:g.138945852_138945868dup17
NC_000003.12:g.138945863_138945879dup
NG_012454.1:g.6273_6289dup
NG_029796.1:g.3630_3646dup
NM_023067.4:c.855_871dupMANE SELECT
NP_075555.1:p.His291fs
LRG_1295t1:c.855_871dup
LRG_1295:g.6273_6289dup
LRG_1295p1:p.His291fs
NC_000003.11:g.138664693_138664694insGGGGGTGCGGCGGAGGC
NC_000003.11:g.138664705_138664721dup
NM_023067.3:c.855_871dup17
p.(His291ArgfsTer71)
p.[His291Argfs*71]

Note:

NCBI staff reviewed the sequence information reported in PubMed 11175783 Fig. 2a to determine the location of this allele on the current reference sequence.

Protein change:

H291fs

Links:

OMIM: 605597.0014; dbSNP: rs797044532

NCBI 1000 Genomes Browser:

rs797044532

Molecular consequence:

NM_023067.4:c.855_871dup - 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
SCV000207367	GeneReviews	no classification provided	not provided	germline	literature only
SCV000484898	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,
SCV000924443	Wessex Regional Genetics Laboratory, Salisbury District Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2018)	unknown, paternal, de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005091083	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 18, 2024)	germline	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	de novo	yes	2	not provided	not provided	2	not provided	clinical testing
not provided	unknown	yes	8	not provided	not provided	8	not provided	clinical testing
not provided	paternal	yes	2	not provided	not provided	2	not provided	clinical testing
not provided	germline	yes	10	not provided	not provided	not provided	not provided	clinical testing, literature only

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 GeneReviews, SCV000207367.2

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

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000484898.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	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		10	not provided	not provided	not provided

From Wessex Regional Genetics Laboratory, Salisbury District Hospital, SCV000924443.1

#	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)

#	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	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	unknown	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	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided
6	paternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
7	unknown	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	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
11	paternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
12	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV005091083.1

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

Description

PVS1, PS4, PM2 - The variant has been reported in ClinVar as Pathogenic by other laboratories (Variation ID 4866). This variant has been previously reported as causative (PMID:31048069).

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine