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NM_000321.3(RB1):c.2482_2483insTTGG (p.Arg828fs) AND Retinoblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 20, 2024
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:
RCV004557177.1

Allele description [Variation Report for NM_000321.3(RB1):c.2482_2483insTTGG (p.Arg828fs)]

NM_000321.3(RB1):c.2482_2483insTTGG (p.Arg828fs)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.3(RB1):c.2482_2483insTTGG (p.Arg828fs)
HGVS:
  • NC_000013.11:g.48465361_48465362insTTGG
  • NG_009009.1:g.166615_166616insTTGG
  • NM_000321.3:c.2482_2483insTTGGMANE SELECT
  • NM_001407165.1:c.2482_2483insTTGG
  • NP_000312.2:p.Arg828Ilefs
  • NP_000312.2:p.Arg828fs
  • NP_001394094.1:p.Arg828fs
  • LRG_517t1:c.2482_2483insTTGG
  • LRG_517:g.166615_166616insTTGG
  • LRG_517p1:p.Arg828Ilefs
  • NC_000013.10:g.49039497_49039498insTTGG
  • NM_000321.2:c.2482_2483insTTGG
Protein change:
R828fs
Molecular consequence:
  • NM_000321.3:c.2482_2483insTTGG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407165.1:c.2482_2483insTTGG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV005046330Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 20, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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 Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine, SCV005046330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Case and Pedigree Information: BILATERAL CASES:1, UNILATERAL CASES:0, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024