NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000521611.1

Allele description [Variation Report for NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)]

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

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.650C>T (p.Ser217Phe)
HGVS:
  • NC_000003.12:g.138946073G>A
  • NG_012454.1:g.6068C>T
  • NG_029796.1:g.3840G>A
  • NM_023067.4:c.650C>TMANE SELECT
  • NP_075555.1:p.Ser217Phe
  • NP_075555.1:p.Ser217Phe
  • LRG_1295t1:c.650C>T
  • LRG_1295:g.6068C>T
  • LRG_1295p1:p.Ser217Phe
  • NC_000003.11:g.138664915G>A
  • NM_023067.3:c.650C>T
  • P58012:p.Ser217Phe
  • p.(Ser217Phe)
Protein change:
S217F
Links:
UniProtKB: P58012#VAR_016887; dbSNP: rs797044527
NCBI 1000 Genomes Browser:
rs797044527
Molecular consequence:
  • NM_023067.4:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000617544GeneDxcriteria provided, single submitter
Pathogenic
(Jul 25, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000617544.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 et al., 2001). Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has not been detected in presumably healthy individuals tested at GeneDx. The S217F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret S217F as a pathogenic variant.

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

Last Updated: Sep 26, 2021

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