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NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Mar 8, 2019)
Last evaluated:
Jul 25, 2017
Accession:
VCV000180594.3
Variation ID:
180594
Description:
single nucleotide variant
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NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)

Allele ID
178776
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q22.3
Genomic location
3: 138946073 (GRCh38) GRCh38 UCSC
3: 138664915 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P58012:p.Ser217Phe
NC_000003.11:g.138664915G>A
NC_000003.12:g.138946073G>A
... more HGVS
Protein change
S217F
Other names
-
Canonical SPDI
NC_000003.12:138946072:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA347073
UniProtKB: P58012#VAR_016887
dbSNP: rs797044527
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 25, 2017 RCV000521611.1
Pathogenic/Likely pathogenic 2 no assertion criteria provided Jan 1, 2018 RCV000192032.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FOXL2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
134 168

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 25, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000617544.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The S217F variant in the FOXL2 gene has previously been reported to segregate with disease in at least one family with blepharophimosis-ptosis-epicanthus inversus (De Baere … (more)
Pathogenic
(Feb 05, 2015)
no assertion criteria provided
Method: literature only
Blepharophimosis, ptosis, and epicanthus inversus
Allele origin: germline
GeneReviews
Accession: SCV000207358.1
Submitted: (Feb 05, 2015)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/book…
Likely pathogenic
(Jan 01, 2018)
no assertion criteria provided
Method: clinical testing
Blepharophimosis, ptosis, and epicanthus inversus
(Autosomal dominant inheritance)
Allele origin: maternal
Wessex Regional Genetics Laboratory,Salisbury District Hospital
Accession: SCV000924428.1
Submitted: (Mar 08, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Blepharophimosis, Ptosis, and Epicanthus Inversus Verdin H - 2015 PMID: 20301614
http://www.ncbi.nlm.nih.gov/books/NBK1441/ - - - -

Text-mined citations for rs797044527...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 12, 2021