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NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000785857.1

Allele description [Variation Report for NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter)]

NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter)

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.818C>A (p.Ser273Ter)
HGVS:
  • NC_000003.12:g.138945905G>T
  • NG_012454.1:g.6236C>A
  • NG_029796.1:g.3672G>T
  • NM_023067.4:c.818C>AMANE SELECT
  • NP_075555.1:p.Ser273Ter
  • LRG_1295t1:c.818C>A
  • LRG_1295:g.6236C>A
  • LRG_1295p1:p.Ser273Ter
  • NC_000003.11:g.138664747G>T
  • NM_023067.3:c.818C>A
  • p.(Arg273Ter)
Protein change:
S273*
Links:
dbSNP: rs1559921973
NCBI 1000 Genomes Browser:
rs1559921973
Molecular consequence:
  • NM_023067.4:c.818C>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924438Wessex Regional Genetics Laboratory, Salisbury District Hospital
no assertion criteria provided

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2015) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot 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 Wessex Regional Genetics Laboratory, Salisbury District Hospital, SCV000924438.1

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

Last Updated: Apr 23, 2022