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i4000377

From SNPedia
23andMe dataI4000377
23andMe searchI4000377
opensnpI4000377
Gene (via rs)BRCA1, NBR2
GeneBRCA1
Chromosome17
Position41276045

aliasrs386833395
Rs_StabilizedOrientationminus
RsGeno Mag Summary
(-;-) 6 185delAG BRCA1 mutation genotype
(-;AG) 6 BRCA1 (breast cancer) 185delAG carrier
(AG;AG) 0 common in clinvar

https://www.23andme.com/health/brca/

i4000377 is also known as the 185delAG BRCA1 variant, as well as c.66_67delAG, c.68_69delAG, p.Glu23Valfs∗17 and p.Glu23Valfs. This is a well known BRCA1 gene variant reported to influence your risk for breast cancer and ovarian cancer. Note that this SNP is known to have reduced penetrance (~40 - 50%).[PMID 26046366OA-icon.png]

The normal/common (unmutated) form of the 185delAG SNP is called i4000377(I;I) by 23andMe; the genotypes containing the mutation are i4000377(D;I) or even less commonly i4000377(D;D).

rs386833395 and rs796856605 and are the NIH dbSNP rsids for this SNP and therefore the names used in SNPedia.