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NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) AND Cataract 18

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 10, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000023625.3

Allele description [Variation Report for NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)]

NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)

Gene:
FYCO1:FYVE and coiled-coil domain autophagy adaptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)
HGVS:
  • NC_000003.12:g.45967788G>A
  • NG_031955.1:g.33037C>T
  • NM_024513.4:c.1546C>TMANE SELECT
  • NP_078789.2:p.Gln516Ter
  • NC_000003.11:g.46009280G>A
Protein change:
Q516*; GLN516TER
Links:
OMIM: 607182.0006; dbSNP: rs387906966
NCBI 1000 Genomes Browser:
rs387906966
Molecular consequence:
  • NM_024513.4:c.1546C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cataract 18 (CATC2)
Synonyms:
Cataract, autosomal recessive congenital 2; CATARACT 18, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0012395; MedGen: C1864908; Orphanet: 91492; Orphanet: 98991; Orphanet: 98992; Orphanet: 98995; OMIM: 610019

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044916OMIM
no assertion criteria provided
Pathogenic
(Jun 10, 2011) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.

Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M.

Isr Med Assoc J. 2001 Aug;3(8):559-62.

PubMed [citation]
PMID:
11519376

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):827-838. doi: 10.1016/j.ajhg.2011.05.008.

PubMed [citation]
PMID:
21636066
PMCID:
PMC3113247

Details of each submission

From OMIM, SCV000044916.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In an affected member of a consanguineous Arab Israeli family with congenital cataract (CTRCT18; 610019), originally studied by Pras et al. (2001) ('family 1'), Chen et al. (2011) identified homozygosity for a 1546C-T transition in exon 8 of the FYCO1 gene, resulting in a gln516-to-ter (Q516X) substitution.

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

Last Updated: Apr 23, 2022