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NM_000321.3(RB1):c.54_79dup (p.Pro27fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2017
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:
RCV002347271.2

Allele description [Variation Report for NM_000321.3(RB1):c.54_79dup (p.Pro27fs)]

NM_000321.3(RB1):c.54_79dup (p.Pro27fs)

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.54_79dup (p.Pro27fs)
HGVS:
  • NC_000013.11:g.48303966_48303991dup
  • NG_009009.1:g.5220_5245dup
  • NM_000321.3:c.54_79dupMANE SELECT
  • NM_001407165.1:c.54_79dup
  • NM_001407166.1:c.54_79dup
  • NM_001407167.1:c.54_79dup
  • NP_000312.2:p.Pro27Argfs
  • NP_000312.2:p.Pro27fs
  • NP_001394094.1:p.Pro27Argfs
  • NP_001394095.1:p.Pro27Argfs
  • NP_001394096.1:p.Pro27Argfs
  • LRG_517t1:c.54_79dup
  • LRG_517:g.5220_5245dup
  • LRG_517p1:p.Pro27Argfs
  • NC_000013.10:g.48878102_48878127dup
  • NM_000321.2:c.54_79dup
  • NM_000321.2:c.54_79dupGGAACCCCCGGCACCGCCGCCGCCGC
Protein change:
P27fs
Molecular consequence:
  • NM_000321.3:c.54_79dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407165.1:c.54_79dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407166.1:c.54_79dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407167.1:c.54_79dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002652193Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 23, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002652193.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.54_79dup26 variant, located in coding exon 1 of the RB1 gene, results from a duplication of 26 nucleotides (GGAACCCCCGGCACCGCCGCCGCCGC) beginning at position 54, causing a translational frameshift with a predicted alternate stop codon (p.P27Rfs*47). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024