rs397507239
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 1743,067,614 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- A;TMost notableBadBRCA1 variant considered pathogenic for breast cancer
SNPedia records rs397507239 on the minus strand: (A;A), (A;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
Notes
c.5068A>T (p.Lys1690Ter) is a BRCA1 variant with somewhat conflicting designations in the past in ClinVar; by consensus, it is now considered pathogenic for breast cancer in ClinVar and also in the ClinVitae database. Note that the other variant/minor alleles possible for this SNP, A>C & A>G, are considered either benign or of uncertain significance, respectively.
A;T
see discussion at rs397507239.
Source and license
Adapted from rs397507239 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.