NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 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:
RCV000078633.1

Allele description [Variation Report for NM_000321.2(RB1):c.1399C>T (p.Arg467Ter)]

Gene:
RB1:retinoblastoma 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.2(RB1):c.1399C>T (p.Arg467Ter)
Other names:
L11910:g.76898C>T
HGVS:
  • NC_000013.11:g.48380062C>T
  • NG_009009.1:g.81316C>T
  • NM_000321.2:c.1399C>T
  • NP_000312.2:p.Arg467Ter
  • LRG_517t1:c.1399C>T
  • LRG_517:g.81316C>T
  • LRG_517p1:p.Arg467Ter
  • NC_000013.10:g.48954198C>T
  • NP_000312.2:p.Arg467*
Protein change:
R467*
Links:
dbSNP: 398123331
NCBI 1000 Genomes Browser:
rs398123331
Molecular consequence:
  • NM_000321.2:c.1399C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000110489Emory Genetics Laboratoryclassified by single submitterPathogenic
(Mar 13, 2013)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From Emory Genetics Laboratory, SCV000110489.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000502479)
PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided
(GTR000502479)
not providednot providednot providednot provided

Last Updated: Dec 11, 2014

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