rs137852986

A SNP in the BRIP1 gene on chromosome 17. Its most notable genotype is A;G: Increased cancer risk; ovarian cancer & related

Gene
BRIP1
Location
Chr 1761,716,051 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadIncreased cancer risk; ovarian cancer & relatedVery important · 6.0

SNPedia records rs137852986 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Show notes, about 160 words

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. mayoclinic.pure.elsevier.com 23andMe name: i5001571

Source and license

Adapted from rs137852986 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.