NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000005134.2

Allele description [Variation Report for NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)]

NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3q22.3

Genomic location:

Preferred name:

NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)

HGVS:

NC_000003.12:g.138945852_138945868del17
NC_000003.12:g.138945863_138945879del
NG_012454.1:g.6273_6289del
NG_029796.1:g.3630_3646del
NM_023067.4:c.855_871delMANE SELECT
NP_075555.1:p.Pro287fs
LRG_1295t1:c.855_871del
LRG_1295:g.6273_6289del
LRG_1295p1:p.Pro287fs
NC_000003.11:g.138664705_138664721del
NM_023067.3:c.855_871del17
p.(Pro287AlafsTer241)

Note:

NCBI staff reviewed the sequence information reported in PubMed 11776388 Fig. 4 to determine the location of this allele on the current reference sequence.

Protein change:

P287fs

Links:

OMIM: 605597.0007; dbSNP: rs797044532

NCBI 1000 Genomes Browser:

rs797044532

Molecular consequence:

NM_023067.4:c.855_871del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II (BPES II)
Synonyms:: Blepharophimosis syndrome type 2; BPES type 2; Blepharophimosis, ptosis, and epicanthus inversus type 2; See all synonyms [MedGen]
Identifiers:: MedGen: C2931136

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025311	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2003)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11776388, 12938087

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025311

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2003)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

Yamada T, Hayasaka S, Matsumoto M, Budu, Esa T, Hayasaka Y, Endo M.

J Hum Genet. 2001;46(12):733-6.

PubMed [citation]

PMID:: 11776388

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.

Udar N, Yellore V, Chalukya M, Yelchits S, Silva-Garcia R, Small K; BPES Consortium..

Hum Mutat. 2003 Sep;22(3):222-8.

PubMed [citation]

PMID:: 12938087

Details of each submission

From OMIM, SCV000025311.1

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

Description

In a Japanese family with BPES type II (110100), Yamada et al. (2001) found a heterozygous 17-bp deletion at nucleotide 1092 in the FOXL2 gene. BPES type II was suspected because the affected woman had 3 sons. Four individuals in 3 sibships in 3 generations were affected. There was 1 instance of male-to-male transmission.

A 17-bp duplication at nucleotide 1092 was described by Udar et al. (2003) in 3 unrelated pedigrees, indicating that nucleotide 1092 is a hotspot; see 605597.0014.

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

Last Updated: Dec 31, 2022

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