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NC_000013.11:g.(?_48303701)_(48480071_?)del AND Retinoblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 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:
RCV001032072.1

Allele description [Variation Report for NC_000013.11:g.(?_48303701)_(48480071_?)del]

NC_000013.11:g.(?_48303701)_(48480071_?)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 - 49054207 (on Assembly GRCh37)
Preferred name:
NC_000013.11:g.(?_48303701)_(48480071_?)del
HGVS:
  • NC_000013.11:g.(?_48303701)_(48480071_?)del
  • NC_000013.10:g.(?_48877837)_(49054207_?)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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001195379Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 15, 2019) 		germlineclinical testing

PubMed (2)
[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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001195379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the RB1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletion of entire coding sequence has been observed in many individuals with retinoblastoma (PMID: 12541220). 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