rs587776716
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5 | Significantly increased risk for melanoma and pancreatic cancer |
| (-;CGGGTCGGGTGAGAGTGGC) | 4 | Significantly increased risk for melanoma and pancreatic cancer |
| (CGGGTCGGGTGAGAGTGGC;CGGGTCGGGTGAGAGTGGC) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 21971115 |
| Gene | CDKN2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776716 |
| dbSNP (classic) | rs587776716 |
| ClinGen | rs587776716 |
| ebi | rs587776716 |
| HLI | rs587776716 |
| Exac | rs587776716 |
| Gnomad | rs587776716 |
| Varsome | rs587776716 |
| LitVar | rs587776716 |
| Map | rs587776716 |
| PheGenI | rs587776716 |
| Biobank | rs587776716 |
| 1000 genomes | rs587776716 |
| hgdp | rs587776716 |
| ensembl | rs587776716 |
| geneview | rs587776716 |
| scholar | rs587776716 |
| rs587776716 | |
| pharmgkb | rs587776716 |
| gwascentral | rs587776716 |
| openSNP | rs587776716 |
| 23andMe | rs587776716 |
| SNPshot | rs587776716 |
| SNPdbe | rs587776716 |
| MSV3d | rs587776716 |
| GWAS Ctlg | rs587776716 |
| Max Magnitude | 5 |
rs587776716, known best as p16-Leiden but also as c.226_244del19, represents a rare mutation in the CDKN2A gene on chromosome 9.
Noticed first and studied primarily in Dutch families with atypical multiple-mole melanoma, the deletion form of rs587776716 has now been linked to significantly increased risk for pancreatic cancer in addition to malignant melanoma. There do appear to be modifiers in the genomes of some individuals that can reduce the cancer risk of this allele.
Increased screening of individuals with the p16-Leiden for both moles and pancreatic cancer is likely to be beneficial.[PMID 27114589]
A detailed description of this allele and studies about it can be found in OMIM 600160.0003.
| ClinVar | |
|---|---|
| Risk | Rs587776716(-;-) |
| Alt | Rs587776716(-;-) |
| Reference | Rs587776716(CGGGTCGGGTGAGAGTGGC;CGGGTCGGGTGAGAGTGGC) |
| Significance | Other |
| Disease | Melanoma Melanoma-pancreatic cancer syndrome Orolaryngeal cancer |
| Variation | info |
| Gene | CDKN2A |
| CLNDBN | Melanoma, cutaneous malignant, susceptibility to, 2 Melanoma-pancreatic cancer syndrome Orolaryngeal cancer, multiple |
| Reversed | 0 |
| HGVS | NC_000009.11:g.21971114_21971132del19 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010013.3, RCV000010015.4, RCV000010016.2, |
