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NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser) AND Melanoma, cutaneous malignant, susceptibility to, 2

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 15, 1994
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:
RCV000010011.2

Allele description [Variation Report for NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser)]

NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser)

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.265G>A (p.Gly89Ser)
Other names:
G259S
HGVS:
  • NC_000009.12:g.21971094C>T
  • NG_007485.1:g.28398G>A
  • NM_000077.5:c.265G>AMANE SELECT
  • NM_001195132.2:c.265G>A
  • NM_001363763.2:c.112G>A
  • NM_058195.4:c.308G>A
  • NM_058197.5:c.*188G>A
  • NP_000068.1:p.Gly89Ser
  • NP_001182061.1:p.Gly89Ser
  • NP_001350692.1:p.Gly38Ser
  • NP_478102.2:p.Gly103Glu
  • LRG_11t1:c.265G>A
  • LRG_11:g.28398G>A
  • NC_000009.11:g.21971093C>T
  • NM_000077.4:c.265G>A
  • P42771:p.Gly89Ser
Protein change:
G103E; GLY259SER
Links:
UniProtKB: P42771#VAR_001454; OMIM: 600160.0001; dbSNP: rs137854597
NCBI 1000 Genomes Browser:
rs137854597
Molecular consequence:
  • NM_058197.5:c.*188G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000077.5:c.265G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195132.2:c.265G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363763.2:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058195.4:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Melanoma, cutaneous malignant, susceptibility to, 2
Synonyms:
Cutaneous malignant melanoma 2
Identifiers:
MONDO: MONDO:0007964; MedGen: C1835044; Orphanet: 618; OMIM: 155601

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030232OMIM
no assertion criteria provided
risk factor
(Apr 15, 1994) 		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

A cell cycle regulator potentially involved in genesis of many tumor types.

Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS 3rd, Johnson BE, Skolnick MH.

Science. 1994 Apr 15;264(5157):436-40.

PubMed [citation]
PMID:
8153634

Details of each submission

From OMIM, SCV000030232.1

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

Description

Among the melanoma (155601) cell lines that carried at least 1 copy of CDKN2A (the other copy frequently being deleted), Kamb et al. (1994) identified a variety of nonsense, missense, or frameshift mutations. One of these was a G-to-A transition that converted gly259 to ser.

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

Last Updated: May 1, 2024