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NM_000321.3(RB1):c.92dup (p.Asp32fs) AND Retinoblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 5, 2016
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:
RCV000722027.2

Allele description [Variation Report for NM_000321.3(RB1):c.92dup (p.Asp32fs)]

NM_000321.3(RB1):c.92dup (p.Asp32fs)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.3(RB1):c.92dup (p.Asp32fs)
HGVS:
  • NC_000013.11:g.48304004dup
  • NG_009009.1:g.5258dup
  • NM_000321.3:c.92dupMANE SELECT
  • NP_000312.2:p.Asp32fs
  • LRG_517:g.5258dup
  • NC_000013.10:g.48878140dup
  • NM_000321.2:c.92dupA
Protein change:
D32fs
Links:
dbSNP: rs1566174147
NCBI 1000 Genomes Browser:
rs1566174147
Molecular consequence:
  • NM_000321.3:c.92dup - 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
SCV000853204St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 5, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV000853204.1

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

Description

This is a frameshift alteration in which an A is duplicated at coding position 92 and is predicted to change an Aspartic Acid to a Glycine at codon 32, shift the reading frame and result in a premature stop codon 17 amino acids downstream.

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

Last Updated: Nov 5, 2022