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rs555607708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 3 increased risk of breast and prostate cancer
(G;G) 0 common/normal


Make rs555607708(-;-)
ReferenceGRCh38 38.1/142
Chromosome22
Position28695869
GeneCHEK2
is asnp
is mentioned by
dbSNPrs555607708
ebirs555607708
HLIrs555607708
Exacrs555607708
Varsomers555607708
Maprs555607708
PheGenIrs555607708
hapmaprs555607708
1000 genomesrs555607708
hgdprs555607708
ensemblrs555607708
gopubmedrs555607708
geneviewrs555607708
scholarrs555607708
googlers555607708
pharmgkbrs555607708
gwascentralrs555607708
openSNPrs555607708
23andMers555607708
23andMe allrs555607708
SNP Nexus

SNPshotrs555607708
SNPdbers555607708
MSV3drs555607708
GWAS Ctlgrs555607708
Max Magnitude3
rs555607708, also known as 1100delC, is a SNP in the checkpoint kinase 2 CHEK2 gene on chromosome 22.

The rare rs555607708(-) allele represents a single nucleotide deletion, and as first reported in 1999, it was reported as causative in heterozygous form in several families for Li-Fraumeni syndrome-2, and associated with breast cancer, glioma, histiocytoma, and sarcoma.[PMID 10617473]

In subsequent years, this SNP has generally been reported as associated with increased cancer risk, including:

  • Breast cancer
    • 2-fold increase of risk in women and a 10-fold increase of risk in men [PMID 11967536]
    • 2-fold increase of risk in women in the 10,000 woman+ CHEK2 Breast Cancer Case-Control Consortium study [PMID 15122511OA-icon.png]

23andMe reports on this SNP under the name i4000462. In ClinVar, four companies all assert pathogenicity for this mutation, primarily for hereditary breast cancer. In OMIM, this is allelic variant 0001 in entry 604373.

ClinVar
Risk rs555607708(;)
Alt rs555607708(;)
Reference rs555607708(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer not provided
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to not provided
Reversed 0
HGVS NC_000022.10:g.29091857delG
CLNSRC Inc.
CLNACC RCV000115980.6, RCV000123265.6, RCV000210137.1, RCV000212447.1,