NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) AND Retinoblastoma

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2013)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000013951.2

Allele description [Variation Report for NM_000321.2(RB1):c.1072C>T (p.Arg358Ter)]

NM_000321.2(RB1):c.1072C>T (p.Arg358Ter)

Gene:
RB1:retinoblastoma 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter)
Other names:
L11910:g.65386C>T
HGVS:
  • NC_000013.11:g.48368549C>T
  • NG_009009.1:g.69803C>T
  • NM_000321.2:c.1072C>T
  • NP_000312.2:p.Arg358Ter
  • LRG_517t1:c.1072C>T
  • LRG_517:g.69803C>T
  • LRG_517p1:p.Arg358Ter
  • NC_000013.10:g.48942685C>T
Protein change:
R358*; ARG358TER
Links:
OMIM: 614041.0008; dbSNP: 121913301
NCBI 1000 Genomes Browser:
rs121913301
Molecular consequence:
  • NM_000321.2:c.1072C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinoblastoma (RB1)
Synonyms:
Retinal tumor; Retinal cancer; Eye cancer, retinoblastoma; See all synonyms [MedGen]
Identifiers:
MedGen: C0035335; Orphanet: 790; OMIM: 180200
Age of onset:
Neonatal/infancy
Prevalence:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034198OMIMno assertion criteria providedPathogenic
(Mar 14, 2013)
unknownliterature only

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

SCV000087370Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicineno assertion criteria providedPathogenic
(Sep 16, 2013)
somaticresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP.

N Engl J Med. 1989 Dec 21;321(25):1689-95.

PubMed [citation]
PMID:
2594029

Details of each submission

From OMIM, SCV000034198.1

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

Description

In cell line RB-W24 from a patient with retinoblastoma (180200), Yandell et al. (1989) identified a 1119C-T transition in exon 11 of the RB1 gene, resulting in an arg358-to-ter substitution. Yandell et al. (1989) could not characterize this mutation because normal somatic tissue was not available for study.

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

From Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine, SCV000087370.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 29, 2015