| Rs_StabilizedOrientation | minus |
| 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 26046366
]
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.
]
