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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025311OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 31, 2022