Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Nijmegen breakage syndrome
(-;TTTGT) 3 higher risk for several cancers; carrier for Nijmegen breakage syndrome allele
(TTTGT;TTTGT) 0 common/normal
ReferenceGRCh38 38.1/142
Chromosome8
Position89971214
GeneNBN
is asnp
is mentioned by
dbSNPrs587776650
ebirs587776650
HLIrs587776650
Exacrs587776650
Varsomers587776650
Maprs587776650
PheGenIrs587776650
hapmaprs587776650
1000 genomesrs587776650
hgdprs587776650
ensemblrs587776650
gopubmedrs587776650
geneviewrs587776650
scholarrs587776650
googlers587776650
pharmgkbrs587776650
gwascentralrs587776650
openSNPrs587776650
23andMers587776650
23andMe allrs587776650
SNP Nexus

SNPshotrs587776650
SNPdbers587776650
MSV3drs587776650
GWAS Ctlgrs587776650
Max Magnitude6

rs587776650, also known as c.657_661delACAAA, 657del5 and p.Lys219Asnfs, is a mutation in the NBN gene on chromosome 8. Carriers of one rs587776650(-) allele are at increased risk for several types of cancer, including breast cancer (odd ratio ~2.5), lymphoma (OR 2.9), and prostate cancer (OR ~6). It may also significantly increase risk for melanoma and Non-Hodgkin Lymphoma. Double mutations (i.e. recessive or compound heterozygote) in the NBN gene cause Nijmegen breakage syndrome.

[PMID 23765759] A meta-analysis of ten studies totaling over 25,000 subjects associated rs587776650(-) with increased breast cancer risk (OR 2.66, CI: 1.82-3.90, p < 0.001).

See also OMIM 602667.0001

Nijmegen breakage syndrome

This mutation is believed to be represented within 23andMe data as i5012770.


ClinVar
Risk rs587776650(;)
Alt rs587776650(;)
Reference rs587776650(TTTGT;TTTGT)
Significance Other
Disease Microcephaly Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000008.10:g.90983442_90983446delTTTGT
CLNSRC Inc. OMIM Allelic Variant
CLNACC RCV000007353.8, RCV000007354.4, RCV000133576.6, RCV000212733.2,