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NM_004064.5(CDKN1B):c.451dup (p.Ile151fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 28, 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:
RCV002339986.2

Allele description [Variation Report for NM_004064.5(CDKN1B):c.451dup (p.Ile151fs)]

NM_004064.5(CDKN1B):c.451dup (p.Ile151fs)

Gene:
CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p13.1
Genomic location:
Preferred name:
NM_004064.5(CDKN1B):c.451dup (p.Ile151fs)
HGVS:
  • NC_000012.12:g.12718290dup
  • NG_016341.1:g.5923dup
  • NM_004064.5:c.451dupMANE SELECT
  • NP_004055.1:p.Ile151fs
  • NC_000012.11:g.12871224dup
  • NM_004064.3:c.451dupA
Protein change:
I151fs
Molecular consequence:
  • NM_004064.5:c.451dup - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002640155Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Dec 28, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002640155.2

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

Description

The c.451dupA variant, located in coding exon 1 of the CDKN1B gene, results from a duplication of A at nucleotide position 451, causing a translational frameshift with a predicted alternate stop codon (p.I151Nfs*54). This alteration occurs at the 3' terminus of theCDKN1B gene, is not expected to trigger nonsense-mediated mRNAdecay, results in the elongation of the protein by 5 amino acids. This frameshift impacts the last 48amino acids of the native protein. The exact functional effect of the altered amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024