rs28897672
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is A;T: considered a pathogenic BRCA1 breast cancer variant
- Gene
- BRCA1
- Location
- Chr 1743,106,487 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;TMost notableBadconsidered a pathogenic BRCA1 breast cancer variant
- A;GBadconsidered a pathogenic BRCA1 breast cancer variant
- C;CBadconsidered a pathogenic BRCA1 breast cancer variant
- A;CBadconsidered a pathogenic BRCA1 breast cancer variant
- A;AGoodnormal
SNPedia records rs28897672 on the minus strand: (A;T), (C;T), (G;G), (G;T), (T;T). 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
- rs28897686A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs28897698A;CBRCA1 variant considered pathogenic for breast cancerVery important
Notes
From SNPedia
Show notes, about 130 words
rs28897672 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 61. The more common rs28897672(T) allele encodes Cys, while the rare rs28897672(G) allele encodes Gly; this variation is also known as c.181T>G, 300T>G, Cys61Gly or C61G. An additional two alternate alleles, c.181T>A and c.181T>C, are also known, and both are annotated in ClinVar as also pathogenic for breast cancer, however, by only a single submitter. A study of 66 Polish families affected with breast cancer or ovarian cancer, often diagnosed at a relatively young age (< 50 years old), screened for BRCA1 mutations by sequencing. The C61G mutation accounted for 20% of the identified mutations in this group of families. * See also Omim 113705.0002 * Also represented as i5010326 by 23andMe
Source and license
Adapted from rs28897672 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.