NM_001453.2(FOXC1):c.116_123delCCATGCCG (p.Ala39Glyfs) AND Axenfeld-Rieger syndrome type 3

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416537.1

Allele description

NM_001453.2(FOXC1):c.116_123delCCATGCCG (p.Ala39Glyfs)

Gene:
FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p25.3
Genomic location:
Preferred name:
NM_001453.2(FOXC1):c.116_123delCCATGCCG (p.Ala39Glyfs)
HGVS:
  • NC_000006.12:g.1610561_1610568delCCATGCCG
  • NG_009368.1:g.5116_5123delCCATGCCG
  • NM_001453.2:c.116_123delCCATGCCG
  • NP_001444.2:p.Ala39Glyfs
  • NC_000006.11:g.1610796_1610803delCCATGCCG
  • NM_001453.2:c.116_123del8
Links:
dbSNP: rs1057519472
NCBI 1000 Genomes Browser:
rs1057519472
Molecular consequence:
  • NM_001453.2:c.116_123delCCATGCCG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Axenfeld-Rieger syndrome type 3 (RIEG3)
Synonyms:
AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS
Identifiers:
MedGen: C2678503; Orphanet: 782; OMIM: 602482
Prevalence:
1-9 / 1 000 000 782

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494252Molecular Pathology, SA Pathologyno assertion criteria providedPathogenicunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianunknownyes21not providednot providedyesclinical testing

Details of each submission

From Molecular Pathology, SA Pathology, SCV000494252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian2not providedyesclinical testingnot provided

Description

Frame-shift introducing premature terminating codon (PTC) effecting functional haploinufficiency; clinical significance consistent with FOXC1 PTC variants found upstream and down stream of this position - each regarded as pathogenic in published literature.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not provided1not provided

Last Updated: Jul 15, 2017

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