rs45553935
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is G;G: increased risk for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,057,122 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadincreased risk for breast cancer
- A;GBadincreased risk for breast cancer
- A;AGoodNormal
SNPedia records rs45553935 on the minus strand: (C;C), (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 200 words
rs45553935 is a tri-allelic SNP in the BRCA1 gene. The reference nucleotide at this position (on the forward strand as listed in dbSNP) is (T); the alternative alleles are (C) and (G). rs45553935(C) corresponds to a BRCA1 change known as Val1736Ala or V1736A, whereas rs45553935(G) corresponds to Val1736Gly or V1736G. This BRCA1 SNP is listed at pathogenic for breast cancer in ClinVar, although the evidence is somewhat indirect. For V1736A, there is now a publication studying the change in depth and concluding it does predispose carriers to breast cancer., The evidence indicating V1736G is pathogenic appears to primarily be computational (i.e. predictive, such as ncbi.nlm.nih.gov) and should be treated with caution. There are breast cancer patients harboring the BRCA1 V1736G mutation, but to our knowledge, to date there is no pedigree or other direct evidence confirming pathogenicity.
G;G
This BRCA1 gene variant is associated with an increased risk for breast cancer. See also the discussion on the rs45553935 page.
A;G
This BRCA1 gene variant is associated with an increased risk for breast cancer. See also the discussion on the rs45553935 page.
Source and license
Adapted from rs45553935 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.