NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) AND Retinoblastoma, trilateral

Clinical significance:Pathogenic (Last evaluated: Mar 14, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013966.1

Allele description [Variation Report for NM_000321.2(RB1):c.1666C>T (p.Arg556Ter)]

Gene:
RB1:retinoblastoma 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter)
Other names:
L11910:g.78250C>T
HGVS:
  • NC_000013.11:g.48381414C>T
  • NG_009009.1:g.82668C>T
  • NM_000321.2:c.1666C>T
  • NP_000312.2:p.Arg556Ter
  • LRG_517t1:c.1666C>T
  • LRG_517:g.82668C>T
  • LRG_517p1:p.Arg556Ter
  • NC_000013.10:g.48955550C>T
Protein change:
R556*; ARG556TER
Links:
OMIM: 614041.0022; dbSNP: 121913304
NCBI 1000 Genomes Browser:
rs121913304
Molecular consequence:
  • NM_000321.2:c.1666C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinoblastoma, trilateral
Identifiers:
MedGen: CN069793

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000034213OMIMPathogenic
(Mar 14, 2013)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.

Onadim Z, Woolford AJ, Kingston JE, Hungerford JL.

Br J Cancer. 1997;76(11):1405-9.

PubMed [citation]
PMID:
9400934
PMCID:
PMC2228178

Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.

Hogg A, Bia B, Onadim Z, Cowell JK.

Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7351-5.

PubMed [citation]
PMID:
8346255
PMCID:
PMC47135
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000034213.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In a child with ectopic intracranial retinoblastoma, Onadim et al. (1997) found a nonsense mutation in exon 17 (codon 556) of the RB1 gene in homozygous (or hemizygous) state in both the retinal and the pineal tumors (180200). Diagnosis of bilateral retinoblastoma was made at the age of 13 months; the patient presented with the pineal tumor 32 months after the initial diagnosis of retinoblastoma. The RB1 mutation was a C-to-T transition (CGA to TGA) within a CpG dinucleotide, converting an arginine codon to a stop codon (R556X). The mutation occurred in a region of the gene that codes for part of the 'pocket' region of the Rb protein. The mutation was present heterozygously in the DNA from the constitutional cells of the patient. The mutation was absent in the blood DNA of both the father and the mother, and was shown to have occurred on the copy of the RB1 gene derived from the father. This mutation had been reported by Hogg et al. (1993) in the retinal tumor from a unilateral nonhereditary case of retinoblastoma. The same mutation was identified as a germline mutation by Cowell et al. (1994) and Liu et al. (1995).

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

Last Updated: Oct 30, 2014

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