NM_024513.3(FYCO1):c.2206C>T (p.Gln736Ter) AND Cataract, autosomal recessive congenital 2

Clinical significance:Pathogenic (Last evaluated: Jun 13, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000023621.2

Allele description [Variation Report for NM_024513.3(FYCO1):c.2206C>T (p.Gln736Ter)]

Gene:
FYCO1:FYVE and coiled-coil domain containing 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_024513.3(FYCO1):c.2206C>T (p.Gln736Ter)
HGVS:
  • NC_000003.12:g.45967128G>A
  • NG_031955.1:g.33697C>T
  • NM_024513.3:c.2206C>T
  • NP_078789.2:p.Gln736Ter
  • NC_000003.11:g.46008620G>A
Protein change:
Q736*; GLN736TER
Links:
OMIM: 607182.0002; dbSNP: 387906964
NCBI 1000 Genomes Browser:
rs387906964
Molecular consequence:
  • NM_024513.3:c.2206C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cataract, autosomal recessive congenital 2 (CATC2)
Synonyms:
CATARACT 18; CATARACT 18, AUTOSOMAL RECESSIVE
Identifiers:
MedGen: C1864908; Orphanet: 91492; Orphanet: 98991; OMIM: 610019
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000044912OMIMPathogenic
(Jun 13, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF.

Am J Hum Genet. 2011 Jun 10;88(6):827-38. doi: 10.1016/j.ajhg.2011.05.008.

PubMed [citation]
PMID:
21636066
PMCID:
PMC3113247

Details of each submission

From OMIM, SCV000044912.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of 3 consanguineous Pakistani families with congenital cataract (CTRCT18; 610019), Chen et al. (2011) identified homozygosity for a 2206C-T transition in exon 8 of the FYCO1 gene, resulting in a gln736-to-ter (Q736X) substitution. The mutation segregated with disease in each family and was not found in 300 unrelated ethnically matched control chromosomes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2014

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