rs80357438
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is A;T: BRCA1 variant considered likely to be pathogenic for ovarian cancer (by ClinVar)
- Gene
- BRCA1
- Location
- Chr 1743,124,032 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;TMost notableBadBRCA1 variant considered likely to be pathogenic for ovarian cancer (by ClinVar)
- A;GBadBRCA1 variant considered pathogenic for breast cancer (by most ClinVar submitters)
- A;AGoodcommon in clinvar
SNPedia records rs80357438 on the minus strand: (A;T), (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 120 words
aka c.65T>C, p.Leu22Ser, L22S This variant is classified by the majority of sources in ClinVar as being pathogenic for breast cancer, however, other sources feel that it is more appropriate to classify it as a variant of unknown significance (VUS) for the time being. Basically, while predicted to be a pathogenic mutation, because it hasn't been seen in enough patients the jury is still out. One of the private (commercial) databases also classifies it as a VUS according to . Note that another variant, c.65T>A or p.Leu22Ter, also exists for this SNP; it is considered likely to be pathogenic for ovarian cancer according to ClinVar. 23andMe name for the T>C variant: i5010342
A;T
see rs80357438
A;G
see discussion at rs80357438.
Source and license
Adapted from rs80357438 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.