NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile) AND Melanoma, cutaneous malignant, susceptibility to, 2

Clinical significance:risk factor (Last evaluated: Aug 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000010021.2

Allele description

NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile)

Gene:
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile)
Other names:
p.M53I:ATG>ATC
HGVS:
  • NC_000009.12:g.21971200C>G
  • NG_007485.1:g.28292G>C
  • NM_000077.4:c.159G>C
  • NM_058195.3:c.202G>C
  • NM_058197.4:c.*82G>C
  • NP_000068.1:p.Met53Ile
  • NP_478102.2:p.Asp68His
  • LRG_11t1:c.159G>C
  • LRG_11t2:c.202G>C
  • LRG_11:g.28292G>C
  • LRG_11p1:p.Met53Ile
  • LRG_11p2:p.Asp68His
  • NC_000009.11:g.21971199C>G
  • P42771:p.Met53Ile
  • p.M53I
Protein change:
D68H; MET53ILE
Links:
UniProtKB: P42771#VAR_001424; OMIM: 600160.0007; dbSNP: rs104894095
NCBI 1000 Genomes Browser:
rs104894095
Allele Frequency:
0.00002(G)
Molecular consequence:
  • NM_058197.4:c.*82G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000077.4:c.159G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Melanoma, cutaneous malignant, susceptibility to, 2
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030242OMIMno assertion criteria providedrisk factor
(Aug 1, 1998)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Germline mutations of the CDKN2 gene in UK melanoma families.

Harland M, Meloni R, Gruis N, Pinney E, Brookes S, Spurr NK, Frischauf AM, Bataille V, Peters G, Cuzick J, Selby P, Bishop DT, Bishop JN.

Hum Mol Genet. 1997 Nov;6(12):2061-7.

PubMed [citation]
PMID:
9328469

CDKN2A mutations in multiple primary melanomas.

Monzon J, Liu L, Brill H, Goldstein AM, Tucker MA, From L, McLaughlin J, Hogg D, Lassam NJ.

N Engl J Med. 1998 Mar 26;338(13):879-87.

PubMed [citation]
PMID:
9516223
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000030242.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

Harland et al. (1997) identified a met53-to-ile (M53I) mutation in the CDKN2A gene in affected members of a family with melanoma (155601). They showed that the protein expressed from this previously described mutation did not bind to CDK4/CDK6 (see 123829), confirming its role as a causal mutation in melanoma. Monzon et al. (1998) found the same mutation in a patient with multiple melanomas who was thought to have no family history of melanoma when first investigated.

Pollock et al. (1998) pointed out that the M53I mutation had been described in 5 melanoma families from Australia and North America. Haplotype analysis suggested that there may have been only 1 original M53I mutation.

MacKie et al. (1998) identified this mutation in 4 U.K. melanoma families and also in 1 patient with multiple primary melanomas and a negative family history.

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

Last Updated: May 7, 2017

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