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NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) AND FOXL2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 17, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003415986.5

Allele description [Variation Report for NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)]

NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)

Gene:
FOXL2:forkhead box L2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q22.3
Genomic location:
Preferred name:
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
HGVS:
  • NC_000003.12:g.138945865_138945881dup
  • NG_012454.1:g.6261_6277dup
  • NG_029796.1:g.3632_3648dup
  • NM_023067.4:c.843_859dupMANE SELECT
  • NP_075555.1:p.Pro287fs
  • LRG_1295t1:c.843_859dup
  • LRG_1295:g.6261_6277dup
  • LRG_1295p1:p.Pro287fs
  • NC_000003.11:g.138664705_138664706insGAGGCGGGGGTGCGGCC
  • NC_000003.11:g.138664707_138664723dup
  • NM_023067.3:c.843_859dup17
  • NP_075555.1:p.Pro287ArgfsTer75
  • p.(Pro287ArgfsTer75)
  • p.[Pro287Argfs*75]
Protein change:
P287fs
Links:
dbSNP: rs672601359
NCBI 1000 Genomes Browser:
rs672601359
Molecular consequence:
  • NM_023067.4:c.843_859dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
FOXL2-related disorder
Synonyms:
FOXL2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004116592PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 17, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 PreventionGenetics, part of Exact Sciences, SCV004116592.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The FOXL2 c.843_859dup17 variant is predicted to result in a frameshift and premature protein termination (p.Pro287Argfs*75). This variant has been reported as a mutational hotspot in the FOXL2 gene and causative for autosomal dominant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type I and II (reported as 1080-1096dup17 in De Baere et al. 2003. PubMed ID: 12529855; Beysen et al. 2008. PubMed ID: 18642388; Chacón-Camacho et al. 2019. PubMed ID: 31048069). In many of the individuals in these reports, the variant was found to have arisen de novo. This variant is classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/162045/). Given the evidence, we interpret FOXL2 c.843_859dup (p.Pro287Argfs*75) as pathogenic.

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

Last Updated: Nov 10, 2024