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NM_023067.4(FOXL2):c.210C>A (p.Ser70Arg) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 18, 2022
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:
RCV003225785.8

Allele description [Variation Report for NM_023067.4(FOXL2):c.210C>A (p.Ser70Arg)]

NM_023067.4(FOXL2):c.210C>A (p.Ser70Arg)

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.210C>A (p.Ser70Arg)
HGVS:
  • NC_000003.12:g.138946513G>T
  • NG_012454.1:g.5628C>A
  • NG_029796.1:g.4280G>T
  • NM_023067.4:c.210C>AMANE SELECT
  • NP_075555.1:p.Ser70Arg
  • LRG_1295t1:c.210C>A
  • LRG_1295:g.5628C>A
  • LRG_1295p1:p.Ser70Arg
  • NC_000003.11:g.138665355G>T
Protein change:
S70R
Molecular consequence:
  • NM_023067.4:c.210C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003807158Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807158.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2 moderated, PP3 supporting

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

Last Updated: May 12, 2024