NM_000321.2(RB1):c.884dupA (p.Asn295Lysfs) 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:
1 submission [Details]
Record status:
current
Accession:
RCV000114714.1

Allele description

NM_000321.2(RB1):c.884dupA (p.Asn295Lysfs)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.2(RB1):c.884dupA (p.Asn295Lysfs)
Other names:
L11910:g.61752dupA
HGVS:
  • NC_000013.11:g.48364916dupA
  • NG_009009.1:g.66170dupA
  • NM_000321.2:c.884dupA
  • NP_000312.2:p.Asn295Lysfs
  • LRG_517t1:c.884dupA
  • LRG_517:g.66170dupA
  • LRG_517p1:p.Asn295Lysfs
  • NC_000013.10:g.48939052dupA
Links:
dbSNP: rs587778828
NCBI 1000 Genomes Browser:
rs587778828
Molecular consequence:
  • NM_000321.2:c.884dupA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinoblastoma (RB1)
Synonyms:
RETINOBLASTOMA, SOMATIC; Retina tumor
Identifiers:
MeSH: D012175; MedGen: C0035335; Orphanet: 790; OMIM: 180200; Human Phenotype Ontology: HP:0009919

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087347Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicineno assertion criteria providedPathogenic
(Sep 16, 2013)
somaticclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine, SCV000087347.1

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

Last Updated: Aug 21, 2018