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NM_000077.5(CDKN2A):c.151-1G>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 26, 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:
RCV000160412.5

Allele description [Variation Report for NM_000077.5(CDKN2A):c.151-1G>C]

NM_000077.5(CDKN2A):c.151-1G>C

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.151-1G>C
HGVS:
  • NC_000009.12:g.21971209C>G
  • NG_007485.1:g.28283G>C
  • NM_000077.5:c.151-1G>CMANE SELECT
  • NM_001195132.2:c.151-1G>C
  • NM_001363763.2:c.-3-1G>C
  • NM_058195.4:c.194-1G>C
  • NM_058197.5:c.*74-1G>C
  • LRG_11t1:c.151-1G>C
  • LRG_11:g.28283G>C
  • NC_000009.11:g.21971208C>G
  • NM_000077.4:c.151-1G>C
Links:
dbSNP: rs730881677
NCBI 1000 Genomes Browser:
rs730881677
Molecular consequence:
  • NM_000077.5:c.151-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195132.2:c.151-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363763.2:c.-3-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_058195.4:c.194-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_058197.5:c.*74-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000277276Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 26, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred.

Petronzelli F, Sollima D, Coppola G, Martini-Neri ME, Neri G, Genuardi M.

Genes Chromosomes Cancer. 2001 Aug;31(4):398-401.

PubMed [citation]
PMID:
11433531

Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred.

Prowse AH, Schultz DC, Guo S, Vanderveer L, Dangel J, Bove B, Cairns P, Daly M, Godwin AK.

J Med Genet. 2003 Aug;40(8):e102. No abstract available.

PubMed [citation]
PMID:
12920094
PMCID:
PMC1735552
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000277276.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.151-1G>C intronic pathogenic mutation results from a G to C one nucleotide upstream from coding exon 2 of the CDKN2A gene. This variant has been observed in patients with personal and family histories of melanoma and/or other tumors such as neurofibromas and peripheral nerve sheath tumors (Petronzelli F et al. Genes Chromosomes Cancer 2001 Aug; 31(4):398-401; Sargen MR et al. Br. J. Dermatol. 2016 Oct;175(4):785-9; Hocevar M et al. Croat. Med. J. 2006 Dec;47(6):851-4; Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. RNA studies have shown that this variant results in aberrant splicing (Petronzelli F et al. Genes Chromosomes Cancer 2001 Aug; 31(4):398-401; Prowse AH et al. J. Med. Genet. 2003 Aug; 40(8):e102). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024