rs137852986
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Increased cancer risk; ovarian cancer & related |
| Make rs137852986(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 61716051 |
| Gene | BRIP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852986 |
| dbSNP (classic) | rs137852986 |
| ClinGen | rs137852986 |
| ebi | rs137852986 |
| HLI | rs137852986 |
| Exac | rs137852986 |
| Gnomad | rs137852986 |
| Varsome | rs137852986 |
| LitVar | rs137852986 |
| Map | rs137852986 |
| PheGenI | rs137852986 |
| Biobank | rs137852986 |
| 1000 genomes | rs137852986 |
| hgdp | rs137852986 |
| ensembl | rs137852986 |
| geneview | rs137852986 |
| scholar | rs137852986 |
| rs137852986 | |
| pharmgkb | rs137852986 |
| gwascentral | rs137852986 |
| openSNP | rs137852986 |
| 23andMe | rs137852986 |
| SNPshot | rs137852986 |
| SNPdbe | rs137852986 |
| MSV3d | rs137852986 |
| GWAS Ctlg | rs137852986 |
| Max Magnitude | 6 |
aka c.2392C>T (p.Arg798Ter or R798X)
There are three reported associations for this variant in the BRIP1 gene.
- Fanconi Anemia, complementation group J: the R798X allele is reported in OMIM as acting recessively in association with this condition.
- Ovarian cancer: Reported in ClinVar by one submitter as likely to be pathogenic for ovarian tumors, acting in a dominant manner.
- Breast cancer: The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). Conclusion：Truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. [1]
23andMe name: i5001571
| ClinVar | |
|---|---|
| Risk | rs137852986(T;T) |
| Alt | rs137852986(T;T) |
| Reference | Rs137852986(C;C) |
| Significance | Other |
| Disease | Fanconi anemia Hereditary cancer-predisposing syndrome Familial cancer of breast not provided Fanconi anemia Neoplasm of breast Neoplasm of ovary |
| Variation | info |
| Gene | BRIP1 |
| CLNDBN | Fanconi anemia, complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast not provided Fanconi anemia Neoplasm of breast Neoplasm of ovary |
| Reversed | 1 |
| HGVS | NC_000017.10:g.59793412G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005004.3, RCV000116139.8, RCV000205436.3, RCV000212324.3, RCV000312325.1, RCV000394625.1, RCV000409918.1, |
