NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) AND Retinoblastoma

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 1989
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:: RCV000013947.2

Allele description

NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)

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.1700C>T (p.Ser567Leu)

HGVS:

NC_000013.11:g.48452997C>T
NG_009009.1:g.154251C>T
NM_000321.3:c.1700C>TMANE SELECT
NP_000312.2:p.Ser567Leu
LRG_517:g.154251C>T
NC_000013.10:g.49027133C>T
P06400:p.Ser567Leu

Protein change:

S567L; SER567LEU

Links:

UniProtKB: P06400#VAR_005579; OMIM: 614041.0004; dbSNP: rs137853292

NCBI 1000 Genomes Browser:

rs137853292

Molecular consequence:

NM_000321.3:c.1700C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034194	OMIM	no assertion criteria provided	Pathogenic (Dec 21, 1989)	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

SCV000034194

OMIM

no assertion criteria provided

Pathogenic
(Dec 21, 1989)

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 the human retinoblastoma gene: their application to genetic counseling.

Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP.

N Engl J Med. 1989 Dec 21;321(25):1689-95.

PubMed [citation]

PMID:: 2594029

Details of each submission

From OMIM, SCV000034194.1

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

Description

In the tumor from a patient (RB-104) with bilateral retinoblastoma (180200), Yandell et al. (1989) identified a 1838C-T transition in exon 18 of the RB1 gene, resulting in a ser567-to-leu substitution. This represented homozygosity for a new germline mutation.

#	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

ClinVar

Relating variation to medicine