NM_000321.3(RB1):c.1688G>A (p.Trp563Ter) 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:: RCV000114735.1

Allele description [Variation Report for NM_000321.3(RB1):c.1688G>A (p.Trp563Ter)]

NM_000321.3(RB1):c.1688G>A (p.Trp563Ter)

Gene:

RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.2

Genomic location:

Preferred name:

NM_000321.3(RB1):c.1688G>A (p.Trp563Ter)

Other names:

L11910:g.78272G>A

HGVS:

NC_000013.11:g.48381436G>A
NG_009009.1:g.82690G>A
NM_000321.3:c.1688G>AMANE SELECT
NP_000312.2:p.Trp563Ter
LRG_517:g.82690G>A
NC_000013.10:g.48955572G>A

Protein change:

W563*

Links:

dbSNP: rs587778863

NCBI 1000 Genomes Browser:

rs587778863

Molecular consequence:

NM_000321.3:c.1688G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Retinoblastoma (RB1)
Synonyms:: Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
Identifiers:: MONDO: MONDO:0008380; MeSH: D012175; MedGen: C0035335; Orphanet: 790; OMIM: 180200; Human Phenotype Ontology: HP:0009919

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087398	Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine	no assertion criteria provided	Pathogenic (Sep 16, 2013)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000087398

Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine

no assertion criteria provided

Pathogenic
(Sep 16, 2013)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine, SCV000087398.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 7, 2023

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