NM_000321.3(RB1):c.2023G>T (p.Glu675Ter) AND Retinoblastoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1992
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:: RCV000013963.2

Allele description [Variation Report for NM_000321.3(RB1):c.2023G>T (p.Glu675Ter)]

NM_000321.3(RB1):c.2023G>T (p.Glu675Ter)

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.2023G>T (p.Glu675Ter)

Other names:

Q675*

HGVS:

NC_000013.11:g.48459750G>T
NG_009009.1:g.161004G>T
NM_000321.3:c.2023G>TMANE SELECT
NP_000312.2:p.Glu675Ter
NP_000312.2:p.Glu675Ter
LRG_517t1:c.2023G>T
LRG_517:g.161004G>T
LRG_517p1:p.Glu675Ter
NC_000013.10:g.49033886G>T
NM_000321.2:c.2023G>T

Protein change:

E675*; GLN675TER

Links:

OMIM: 614041.0020; dbSNP: rs137853295

NCBI 1000 Genomes Browser:

rs137853295

Molecular consequence:

NM_000321.3:c.2023G>T - 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
SCV000034210	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034210

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1992)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

Onadim Z, Hogg A, Baird PN, Cowell JK.

Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):6177-81.

PubMed [citation]

PMID:: 1352883
PMCID:: PMC402145

Details of each submission

From OMIM, SCV000034210.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

See 614041.0019. In a second family with incomplete penetrance of retinoblastoma (180200), Onadim et al. (1992) observed a G-to-T transversion in codon 675 that converted a glutamine (GAA) to a stop (TAA) codon. The mutation occurred near a potential cryptic splice acceptor site, raising the possibility of alternative splicing resulting in a less severely disrupted protein.

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

Last Updated: Nov 5, 2022

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