rs80357914
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is -;AG: BRCA1 variant considered pathogenic for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,124,027 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;AGMost notableBadBRCA1 variant considered pathogenic for breast cancer
- -;CBadBRCA1 variant considered pathogenic for breast cancer
SNPedia records rs80357914 on the minus strand: (-;-), (-;AG), (-;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other BRCA1 SNPs
- rs28897696T;Tcarrier of two copies of BRCA1 variant; likely to be at high risk for breast/ovarian cancerVery important
- rs41286296A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625306A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625307A;GBRCA1 pathogenic mutation associated with breast cancerVery important
- i6051899A;Clikely to be BRCA1 variant pathogenic for breast cancerVery important
- rs1800747C;TBRCA1 pathogenic mutation associated with breast cancerVery important
- rs28897672A;Tconsidered a pathogenic BRCA1 breast cancer variantVery important
- rs28897686A;CBRCA1 pathogenic mutation associated with breast cancerVery important
Notes
From SNPedia
Show notes, about 150 words
rs80357914, also known as 188insAG, c.68_69insAG and p.Glu23_Cys24?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. More recently, dbSNP has decided that rs80357914 can also represent c.66_67delAG as well. Note that dbSNP also lists c.69dupG as an alternate allele for rs80357914. One consequence of this is that since Ancestry.com does not reveal what exactly they are testing to their customers, when they report an "I" (insertion) for their users it is not known if they are reporting the c68_69insAG or the c.69dupG mutation. Since both are considered pathogenic, this may be a moot issue, but if someone with access to Illumina's or Ancestry's probe file for the DNA chip in use by them ever wishes to clarify which variant is being tested please contact us.
-;AG
See details at rs80357914. Note: if raw data is DI, exact mutation may be ambiguous.
-;C
Considered pathogenic in ClinVar.
Source and license
Adapted from rs80357914 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.