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rs137852986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Increased cancer risk; ovarian cancer & related
Make rs137852986(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position61716051
GeneBRIP1
is asnp
is mentioned by
dbSNPrs137852986
dbSNP (classic)rs137852986
ClinGenrs137852986
ebirs137852986
HLIrs137852986
Exacrs137852986
Gnomadrs137852986
Varsomers137852986
LitVarrs137852986
Maprs137852986
PheGenIrs137852986
Biobankrs137852986
1000 genomesrs137852986
hgdprs137852986
ensemblrs137852986
geneviewrs137852986
scholarrs137852986
googlers137852986
pharmgkbrs137852986
gwascentralrs137852986
openSNPrs137852986
23andMers137852986
23andMe allrs137852986
SNPshotrs137852986
SNPdbers137852986
MSV3drs137852986
GWAS Ctlgrs137852986
Max Magnitude6

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


OMIM605882
Desc
Variant0003
Relatedalso
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,