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NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs) AND Melanoma-pancreatic cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000030680.6

Allele description [Variation Report for NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs)]

NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs)

Gene:
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs)
HGVS:
  • NC_000009.12:g.21974806_21974810dup
  • NG_007485.1:g.24683_24687dup
  • NM_000077.5:c.19_23dupMANE SELECT
  • NM_001195132.2:c.19_23dup
  • NM_001363763.2:c.-3-3601_-3-3597dup
  • NM_058195.4:c.194-3601_194-3597dup
  • NM_058197.5:c.19_23dup
  • NP_000068.1:p.Ser8fs
  • NP_001182061.1:p.Ser8fs
  • NP_478104.2:p.Ser8fs
  • LRG_11t1:c.19_23dup
  • LRG_11:g.24683_24687dup
  • NC_000009.11:g.21974805_21974809dup
  • NM_000077.4:c.19_23dup
Protein change:
S8fs
Links:
OMIM: 600160.0022; dbSNP: rs2131114005
NCBI 1000 Genomes Browser:
rs2131114005
Molecular consequence:
  • NM_000077.5:c.19_23dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195132.2:c.19_23dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058197.5:c.19_23dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363763.2:c.-3-3601_-3-3597dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058195.4:c.194-3601_194-3597dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Melanoma-pancreatic cancer syndrome
Identifiers:
MONDO: MONDO:0011713; MedGen: C1838547; Orphanet: 404560; OMIM: 606719

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053341OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2012) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas.

Harinck F, Kluijt I, van der Stoep N, Oldenburg RA, Wagner A, Aalfs CM, Sijmons RH, Poley JW, Kuipers EJ, Fockens P, van Os TA, Bruno MJ.

J Med Genet. 2012 Jun;49(6):362-5. doi: 10.1136/jmedgenet-2011-100563. Epub 2012 May 25.

PubMed [citation]
PMID:
22636603

Details of each submission

From OMIM, SCV000053341.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 members of a family of Indonesian descent with pancreatic cancer (606719), Harinck et al. (2012) identified a heterozygous 5-bp duplication (19_23dup) in the CDKN2A gene, resulting in a frameshift and premature termination. Although there were no cases of melanoma in this family, Harinck et al. (2012) noted that the dark skin of the individuals may have offered protection from developing melanoma.

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

Last Updated: Dec 24, 2023