NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) AND Blepharophimosis, ptosis, and epicanthus inversus

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 1, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000192032.2

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)

Name:
Blepharophimosis, ptosis, and epicanthus inversus (BPES)
Identifiers:
MONDO: MONDO:0007201; MedGen: C0220663; Orphanet: 126; OMIM: 110100

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000207358GeneReviewsno assertion criteria providedPathogenic
(Feb 5, 2015)
germlineliterature only

Citation Link,

SCV000924428Wessex Regional Genetics Laboratory,Salisbury District Hospitalno assertion criteria provided
Likely pathogenic
(Jan 1, 2018)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedmaternalyesnot providednot providednot providednot providednot providedclinical 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 GeneReviews, SCV000207358.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Wessex Regional Genetics Laboratory,Salisbury District Hospital, SCV000924428.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 26, 2021

Support Center