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rs768966657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;GAC) 6 For those w/ cancer, a slightly worse prognosis; also, slightly increased melanoma risk
Make rs768966657(GAC;GAC)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position21971021
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs768966657
ebirs768966657
HLIrs768966657
Exacrs768966657
Varsomers768966657
Maprs768966657
PheGenIrs768966657
hapmaprs768966657
1000 genomesrs768966657
hgdprs768966657
ensemblrs768966657
gopubmedrs768966657
geneviewrs768966657
scholarrs768966657
googlers768966657
pharmgkbrs768966657
gwascentralrs768966657
openSNPrs768966657
23andMers768966657
23andMe allrs768966657
SNP Nexus

SNPshotrs768966657
SNPdbers768966657
MSV3drs768966657
GWAS Ctlgrs768966657
Max Magnitude6

rs768966657, also known as c.335_337dupGTC, p.Arg112_Leu113insArg and Argdup112, represents a mutation in the CDKN2A gene on chromosome 9.

This appears to the mutation described by Borg et al. [PMID 8653684OA-icon.png] as a founder mutation predisposing to melanoma from ~2000 years ago from southern Sweden.

More recently, cancer patients who have a CDKN2A Argdup112 mutation are reported to have a worse survival than non-carriers for both melanoma (hazard ratio 2.5, CI: 1.49 - 4.21) and especially non-melanoma cancers (HR 7.77, CI: 3.65 - 16.51).[PMID 27287845] news


ClinVar
Risk rs768966657(GAC;GAC)
Alt rs768966657(GAC;GAC)
Reference rs768966657(;)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not provided
Variation info
Gene CDKN2A
CLNDBN Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not provided
Reversed 0
HGVS NC_000009.11:g.21971021_21971023dupGAC
CLNSRC
CLNACC RCV000162477.1, RCV000232355.1, RCV000237004.1,