NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 28, 2019
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:: RCV000785862.2

Allele description [Variation Report for NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)]

NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

3q22.3

Genomic location:

Preferred name:

NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)

HGVS:

NC_000003.12:g.138945768GCGGCGGC[1]
NG_012454.1:g.6358GCCGCCGC[1]
NG_029796.1:g.3535GCGGCGGC[1]
NM_023067.4:c.948_955delMANE SELECT
NP_075555.1:p.Pro317fs
LRG_1295t1:c.948_955del
LRG_1295:g.6358GCCGCCGC[1]
LRG_1295p1:p.Pro317fs
NC_000003.11:g.138664610GCGGCGGC[1]
NC_000003.11:g.138664610_138664617delGCGGCGGC
NM_023067.3:c.940_947del
p.(Pro317GlyfsTer214)

Protein change:

P317fs

Links:

dbSNP: rs1576469579

NCBI 1000 Genomes Browser:

rs1576469579

Molecular consequence:

NM_023067.4:c.948_955del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000924446	Wessex Regional Genetics Laboratory, Salisbury District Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2011)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001136616	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924446

Wessex Regional Genetics Laboratory, Salisbury District Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2011)

unknown

clinical testing

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

SCV001136616

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Wessex Regional Genetics Laboratory, Salisbury District Hospital, SCV000924446.1

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

From Mendelics, SCV001136616.1

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

Last Updated: Jan 13, 2025

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