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NM_000321.3(RB1):c.19dup (p.Arg7fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 25, 2012
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:
RCV000492515.1

Allele description [Variation Report for NM_000321.3(RB1):c.19dup (p.Arg7fs)]

NM_000321.3(RB1):c.19dup (p.Arg7fs)

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.19dup (p.Arg7fs)
HGVS:
  • NC_000013.11:g.48303931dup
  • NG_009009.1:g.5185dup
  • NM_000321.3:c.19dupMANE SELECT
  • NP_000312.2:p.Arg7fs
  • NP_000312.2:p.Arg7fs
  • LRG_517t1:c.19dup
  • LRG_517:g.5185dup
  • LRG_517p1:p.Arg7fs
  • NC_000013.10:g.48878061_48878062insC
  • NC_000013.10:g.48878067dup
  • NM_000321.2:c.19dup
  • NM_000321.2:c.19dupC
Protein change:
R7fs
Links:
dbSNP: rs1131690852
NCBI 1000 Genomes Browser:
rs1131690852
Molecular consequence:
  • NM_000321.3:c.19dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580780Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Dec 25, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000580780.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024