rs41293455
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is A;G: BRCA1 variant considered pathogenic for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,082,434 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodnormal
- C;GNot ratedBRCA1 variant that is probably benign
- A;GMost notableBadBRCA1 variant considered pathogenic for breast cancer
- A;ANot ratedpredisposition to breast cancer?
SNPedia records rs41293455 on the minus strand: (C;C), (C;G), (C;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 140 words
rs41293455 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1443. The more common rs41293455(C) allele encodes Arg, while the rare rs41293455(T) allele encodes a stop codon (aka c.4327C>T, p.Arg1443Ter). Another variant, rs41293455(G), encodes a Gly (aka c.4327C>G or p.Arg1443Gly); this variant appears to be benign by consensus in ClinVar. A well known study published in 1994 looked at 50 family pedigrees with breast cancer and ovarian cancer susceptibility, discovering what they believed were eight putative disease-causing mutations (four frameshifts, two nonsense mutations) and an additional two missense mutations. rs41293455 was one of these variants. * See also Omim 113705.0016 * See also Omim 113705.0017
C;G
see discussion at rs41293455
A;G
see discussion at rs41293455.
Source and license
Adapted from rs41293455 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.