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NM_000321.3(RB1):c.136del (p.Arg46fs) AND Retinoblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 2023
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:
RCV003515437.2

Allele description [Variation Report for NM_000321.3(RB1):c.136del (p.Arg46fs)]

NM_000321.3(RB1):c.136del (p.Arg46fs)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.3(RB1):c.136del (p.Arg46fs)
HGVS:
  • NC_000013.11:g.48304048del
  • NG_009009.1:g.5302del
  • NG_127783.1:g.544del
  • NM_000321.3:c.136delMANE SELECT
  • NM_001407165.1:c.136del
  • NM_001407166.1:c.136del
  • NM_001407167.1:c.136del
  • NP_000312.2:p.Arg46Glyfs
  • NP_000312.2:p.Arg46fs
  • NP_001394094.1:p.Arg46fs
  • NP_001394095.1:p.Arg46fs
  • NP_001394096.1:p.Arg46fs
  • LRG_517t1:c.136del
  • LRG_517:g.5302del
  • LRG_517p1:p.Arg46Glyfs
  • NC_000013.10:g.48878184del
  • NM_000321.2:c.136delA
Protein change:
R46fs
Molecular consequence:
  • NM_000321.3:c.136del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407165.1:c.136del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407166.1:c.136del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407167.1:c.136del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004367683Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 13, 2023) 		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

Genotype-phenotype correlations in hereditary familial retinoblastoma.

Taylor M, Dehainault C, Desjardins L, Doz F, Levy C, Sastre X, Couturier J, Stoppa-Lyonnet D, Houdayer C, Gauthier-Villars M.

Hum Mutat. 2007 Mar;28(3):284-93.

PubMed [citation]
PMID:
17096365

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004367683.1

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

Description

This sequence change creates a premature translational stop signal (p.Arg46Glyfs*19) in the RB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RB1-related conditions. 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: Sep 29, 2024