rs41293463
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is A;T: BRCA1 variant considered pathogenic for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,051,071 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;TMost notableBadBRCA1 variant considered pathogenic for breast cancer
- C;CBadBRCA1 variant considered pathogenic for breast cancer
- A;CBadBRCA1 variant considered pathogenic for breast cancer
- A;AGoodnormal
SNPedia records rs41293463 on the minus strand: (A;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
- 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
rs41293463, also known as c.5324T>G (p.Met1775Arg or M1775R) as well as c.5324T>A (p.Met1775Lys or M1775K), is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1775. A study found that the rs41293463(G) allele has impaired transcriptional ability, and this allele was found in some patients with breast cancer. It seems likely that primarily (G;G) homozygotes would be at increased risk for breast cancer but this has not been demonstrated. ClinVar has designated both minor alleles as pathogenic for breast cancer. This variant is considered to be the first BRCA1 mutation identified in an African-American family. It is also among the most common hereditary breast cancer mutations observed in a group of Nigerian patients. 23andMe name for the T>G variant: i5010037 * See also Omim 113705.0035
A;T
see discussion at rs41293463.
C;C
see discussion at rs41293463.
A;C
see discussion at rs41293463.
Source and license
Adapted from rs41293463 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.