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NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp) AND Axenfeld-Rieger syndrome type 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2016
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:
RCV000416542.2

Allele description [Variation Report for NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)]

NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)

Genes:
LOC129995601:ATAC-STARR-seq lymphoblastoid active region 23864 [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.269C>A (p.Ala90Asp)
HGVS:
  • NC_000006.12:g.1610714C>A
  • NG_009368.1:g.5269C>A
  • NM_001453.3:c.269C>AMANE SELECT
  • NP_001444.2:p.Ala90Asp
  • LRG_1245t1:c.269C>A
  • LRG_1245:g.5269C>A
  • LRG_1245p1:p.Ala90Asp
  • NC_000006.11:g.1610949C>A
  • NM_001453.2:c.269C>A
Protein change:
A90D
Links:
dbSNP: rs1057519474
NCBI 1000 Genomes Browser:
rs1057519474
Molecular consequence:
  • NM_001453.3:c.269C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494255Genetics and Molecular Pathology, SA Pathology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 22, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianunknownyes11not providednot providednoclinical 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 Genetics and Molecular Pathology, SA Pathology, SCV000494255.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 8, 2024