NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 5, 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:: RCV002512795.3

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002986554	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 5, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17277738, 18484667, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002986554

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 5, 2023)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Wang J, Liu J, Zhang Q.

Mol Vis. 2007 Jan 26;13:108-13.

PubMed [citation]

PMID:: 17277738
PMCID:: PMC2533039

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Nallathambi J, Laissue P, Batista F, Benayoun BA, Lesaffre C, Moumné L, Pandaranayaka PE, Usha K, Krishnaswamy S, Sundaresan P, Veitia RA.

Hum Mutat. 2008 Aug;29(8):E123-31. doi: 10.1002/humu.20809.

PubMed [citation]

PMID:: 18484667

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002986554.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant, c.672_701dup, results in the insertion of 10 amino acid(s) of the FOXL2 protein (p.Ala225_Ala234dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with blepharophimosis (PMID: 17277738, 18484667). It has also been observed to segregate with disease in related individuals. This variant is also known as p.224_234dup10. ClinVar contains an entry for this variant (Variation ID: 4854). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 7, 2024

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