U.S. flag

An official website of the United States government

NC_000013.11:g.(?_48303701)_(48412896_?)del AND Retinoblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001033004.1

Allele description [Variation Report for NC_000013.11:g.(?_48303701)_(48412896_?)del]

NC_000013.11:g.(?_48303701)_(48412896_?)del

Genes:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.2
Genomic location:
Chr13: 48877837 - 48987032 (on Assembly GRCh37)
Preferred name:
NC_000013.11:g.(?_48303701)_(48412896_?)del
HGVS:
  • NC_000013.11:g.(?_48303701)_(48412896_?)del
  • NC_000013.10:g.(?_48877837)_(48987032_?)del

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001196311Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 25, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma.

Ottaviani D, Parma D, Giliberto F, Ferrer M, Fandino A, Davila MT, Chantada G, Szijan I.

Ophthalmic Genet. 2013 Dec;34(4):189-98. doi: 10.3109/13816810.2012.755553. Epub 2013 Jan 10.

PubMed [citation]
PMID:
23301675

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

Richter S, Vandezande K, Chen N, Zhang K, Sutherland J, Anderson J, Han L, Panton R, Branco P, Gallie B.

Am J Hum Genet. 2003 Feb;72(2):253-69. Epub 2002 Dec 18.

PubMed [citation]
PMID:
12541220
PMCID:
PMC379221
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001196311.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is a gross deletion of the genomic region encompassing exons 1-17 of the RB1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 17 of the RB1 gene. This is expected to result in an absent or disrupted protein product. This variant has been observed in individuals affected with retinoblastoma (PMID: 23301675, 12541220, Invitae). Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022