NM_000321.3(RB1):c.1568T>A (p.Leu523Ter) AND Retinoblastoma

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 20, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001523841.2

Allele description [Variation Report for NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)]

NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)

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.1568T>A (p.Leu523Ter)

HGVS:

NC_000013.11:g.48381316T>A
NG_009009.1:g.82570T>A
NM_000321.3:c.1568T>AMANE SELECT
NP_000312.2:p.Leu523Ter
LRG_517:g.82570T>A
NC_000013.10:g.48955452T>A

Protein change:

L523*

Links:

dbSNP: rs2138145156

NCBI 1000 Genomes Browser:

rs2138145156

Molecular consequence:

NM_000321.3:c.1568T>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV001478150	Department of Pediatrics, Memorial Sloan Kettering Cancer Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 15, 2020)	germline	research	PubMed (2) [See all records that cite these PMIDs] 28873162, 25741868
SCV005046164	Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 20, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478150

Department of Pediatrics, Memorial Sloan Kettering Cancer Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 15, 2020)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

SCV005046164

Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 20, 2024)

germline

clinical testing

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	yes	1	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, et al.

JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. Erratum in: JAMA. 2018 Dec 11;320(22):2381. doi: 10.1001/jama.2018.17511.

PubMed [citation]

PMID:: 28873162
PMCID:: PMC5611881

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Pediatrics, Memorial Sloan Kettering Cancer Center, SCV001478150.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

From Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine, SCV005046164.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

Case and Pedigree Information: BILATERAL CASES:1, UNILATERAL CASES:0, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PVS1, PP5

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine