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NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter) AND Axenfeld-Rieger syndrome type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 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:
RCV002293576.1

Allele description [Variation Report for NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)]

NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)

Gene:
FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.3
Genomic location:
Preferred name:
NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)
HGVS:
  • NC_000006.12:g.1610811G>A
  • NG_009368.1:g.5366G>A
  • NM_001453.3:c.366G>AMANE SELECT
  • NP_001444.2:p.Trp122Ter
  • LRG_1245t1:c.366G>A
  • LRG_1245:g.5366G>A
  • LRG_1245p1:p.Trp122Ter
  • NC_000006.11:g.1611046G>A
  • NM_001453.2:c.366G>A
Protein change:
W122*
Molecular consequence:
  • NM_001453.3:c.366G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Axenfeld-Rieger syndrome type 3 (RIEG3)
Synonyms:
Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; Rieger syndrome type 3; Anterior chamber cleavage syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011233; MedGen: C2678503; Orphanet: 782; OMIM: 602482

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002538957Human Developmental Genetics Laboratory, Medical College of Wisconsin
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 23, 2022) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedresearch

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

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, et al.

J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26.

PubMed [citation]
PMID:
35882526
PMCID:
PMC9912354

Details of each submission

From Human Developmental Genetics Laboratory, Medical College of Wisconsin, SCV002538957.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 29, 2022