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NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 3, 2016
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:
RCV000408800.2

Allele description [Variation Report for NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr)]

NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr)

Gene:
FOXL2:forkhead box L2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.3
Genomic location:
Preferred name:
NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr)
HGVS:
  • NC_000003.12:g.138945924G>T
  • NG_012454.1:g.6217C>A
  • NG_029796.1:g.3691G>T
  • NM_023067.4:c.799C>AMANE SELECT
  • NP_075555.1:p.Pro267Thr
  • LRG_1295t1:c.799C>A
  • LRG_1295:g.6217C>A
  • LRG_1295p1:p.Pro267Thr
  • NC_000003.11:g.138664766G>T
  • NM_023067.3:c.799C>A
  • p.[Pro267Thr]
Protein change:
P267T
Links:
dbSNP: rs753641620
NCBI 1000 Genomes Browser:
rs753641620
Molecular consequence:
  • NM_023067.4:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000484890Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Likely benign
(Nov 3, 2016) 		germlineclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000484890.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024