rs587776650
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 89971214 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776650 |
| dbSNP (classic) | rs587776650 |
| ClinGen | rs587776650 |
| ebi | rs587776650 |
| HLI | rs587776650 |
| Exac | rs587776650 |
| Gnomad | rs587776650 |
| Varsome | rs587776650 |
| LitVar | rs587776650 |
| Map | rs587776650 |
| PheGenI | rs587776650 |
| Biobank | rs587776650 |
| 1000 genomes | rs587776650 |
| hgdp | rs587776650 |
| ensembl | rs587776650 |
| geneview | rs587776650 |
| scholar | rs587776650 |
| rs587776650 | |
| pharmgkb | rs587776650 |
| gwascentral | rs587776650 |
| openSNP | rs587776650 |
| 23andMe | rs587776650 |
| SNPshot | rs587776650 |
| SNPdbe | rs587776650 |
| MSV3d | rs587776650 |
| GWAS Ctlg | rs587776650 |
| Max Magnitude | 6 |
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
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 Lissencephaly |
| Variation | info |
| Gene | NBN |
| CLNDBN | Microcephaly, normal intelligence and immunodeficiency Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Lissencephaly Microcephaly |
| Reversed | 0 |
| HGVS | NC_000008.10:g.90983442_90983446delTTTGT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007353.9, RCV000007354.5, RCV000133576.7, RCV000212733.3, RCV000415248.1, |
