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NM_000077.5(CDKN2A):c.455C>G (p.Ser152Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 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:
RCV004520410.1

Allele description [Variation Report for NM_000077.5(CDKN2A):c.455C>G (p.Ser152Ter)]

NM_000077.5(CDKN2A):c.455C>G (p.Ser152Ter)

Gene:
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_000077.5(CDKN2A):c.455C>G (p.Ser152Ter)
HGVS:
  • NC_000009.12:g.21970904G>C
  • NG_007485.1:g.28588C>G
  • NM_000077.5:c.455C>GMANE SELECT
  • NM_001195132.2:c.455C>G
  • NM_001363763.2:c.302C>G
  • NM_058195.4:c.*99C>G
  • NM_058197.5:c.*378C>G
  • NP_000068.1:p.Ser152Ter
  • NP_000068.1:p.Ser152Ter
  • NP_001182061.1:p.Ser152Ter
  • NP_001350692.1:p.Ser101Ter
  • LRG_11t1:c.455C>G
  • LRG_11t2:c.*99C>G
  • LRG_11:g.28588C>G
  • LRG_11p1:p.Ser152Ter
  • NC_000009.11:g.21970903G>C
  • NM_000077.4:c.455C>G
  • NM_058195.3:c.*99C>G
Protein change:
S101*
Molecular consequence:
  • NM_058195.4:c.*99C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_058197.5:c.*378C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000077.5:c.455C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195132.2:c.455C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363763.2:c.302C>G - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005032160Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 19, 2023) 		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, SCV005032160.1

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

Description

The p.S152* variant (also known as c.455C>G), located in coding exon 2 of the CDKN2A gene, results from a C to G substitution at nucleotide position 455. This changes the amino acid from a serine to a stop codon within coding exon 2. This alteration occurs at the 3' terminus of CDKN2A gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 5 amino acids of the protein. The exact functional effect of this alteration 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