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NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) AND Retinoblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2013
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:
RCV000114729.1

Allele description

NM_000321.2(RB1):c.1363C>T (p.Arg455Ter)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter)
Other names:
L11910:g.76460C>T
HGVS:
  • NC_000013.11:g.48379624C>T
  • NG_009009.1:g.80878C>T
  • NM_000321.2:c.1363C>T
  • NP_000312.2:p.Arg455Ter
  • LRG_517t1:c.1363C>T
  • LRG_517:g.80878C>T
  • LRG_517p1:p.Arg455Ter
  • NC_000013.10:g.48953760C>T
Protein change:
R455*
Links:
dbSNP: rs121913302
NCBI 1000 Genomes Browser:
rs121913302
Molecular consequence:
  • NM_000321.2:c.1363C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinoblastoma (RB1)
Synonyms:
RETINOBLASTOMA, SOMATIC
Identifiers:
MedGen: C0035335; Orphanet: 790; OMIM: 180200
Age of onset:
Antenatal
Prevalence:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087397Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine
no assertion criteria provided
Pathogenic
(Sep 16, 2013) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine, SCV000087397.1

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

Last Updated: Jan 30, 2017