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NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 30, 2023
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:
RCV003565418.2

Allele description [Variation Report for NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter)]

NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter)

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.612G>A (p.Trp204Ter)
HGVS:
  • NC_000003.12:g.138946111C>T
  • NG_012454.1:g.6030G>A
  • NG_029796.1:g.3878C>T
  • NM_023067.4:c.612G>AMANE SELECT
  • NP_075555.1:p.Trp204Ter
  • LRG_1295t1:c.612G>A
  • LRG_1295:g.6030G>A
  • LRG_1295p1:p.Trp204Ter
  • NC_000003.11:g.138664953C>T
  • NM_023067.3:c.612G>A
  • p.[Trp204*]
Protein change:
W204*
Links:
dbSNP: rs1057516164
NCBI 1000 Genomes Browser:
rs1057516164
Molecular consequence:
  • NM_023067.4:c.612G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004320708Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 30, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, et al.

Hum Mol Genet. 2001 Jul 15;10(15):1591-600.

PubMed [citation]
PMID:
11468277

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Castets S, Roucher-Boulez F, Saveanu A, Mallet-Motak D, Chabre O, Amati-Bonneau P, Bonneau D, Girardin C, Morel Y, Villanueva C, Brue T, Reynaud R, Nicolino M.

Horm Res Paediatr. 2020;93(1):30-39. doi: 10.1159/000507249. Epub 2020 May 26.

PubMed [citation]
PMID:
32454486
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004320708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FOXL2 protein in which other variant(s) (p.Pro307Hisfs*52) have been determined to be pathogenic (PMID: 11468277). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 369915). This premature translational stop signal has been observed in individual(s) with blepharophimosis (PMID: 32454486). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp204*) in the FOXL2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 173 amino acid(s) of the FOXL2 protein.

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

Last Updated: Sep 29, 2024