rs28934578
A SNP in the TP53 gene on chromosome 17. Its most notable genotype is T;T: info@snpedia.com would like to hear from you
- Gene
- TP53
- Location
- Chr 177,675,088 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadinfo@snpedia.com would like to hear from you
- C;TBadLi-Fraumeni syndrome?? (an inherited cancer predisposition - but see note below)
- C;CGoodcommon in clinvar
SNPedia records rs28934578 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other TP53 SNPs
- rs11540652C;TLi-Fraumeni Syndrome (predicted)Very important
- rs11575997C;TLi-Fraumeni Syndrome (predicted)Very important
- rs28934573C;GLi-Fraumeni Syndrome (predicted)Very important
- rs28934574C;GLi-Fraumeni Syndrome (predicted)Very important
- rs28934575C;TLi-Fraumeni Syndrome (predicted)Very important
- rs28934576C;TLi-Fraumeni Syndrome (predicted)Very important
- rs28934577A;CLi-Fraumeni Syndrome (predicted)Very important
- rs28934873A;GLi-Fraumeni Syndrome (predicted)Very important
Notes
From SNPedia
Show notes, about 310 words
rs28934578, also known as 721G>A, R175H and Arg175His, is a SNP in the p53 TP53 tumor suppressor gene. Other variations in this gene are associated with a associated with predisposition to cancer in the form of Li-Fraumeni syndrome . This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. Note: We have noticed a statistically unlikely increase in the number of customers of one DNA testing company who's genotype for this SNP is being reported as heterozygous. This is likely a technical error (the customers are actually likely to be carrying the normal, unmutated genotype for this SNP). Anyone who receives a report indicating they carry a mutation at this SNP should seek to have a clinically validated test carried out if they have either a significant family history of cancer or if they have any concerns about this.
T;T
Li Fraumeni is the condition associated with this genotype. However, this genotype is so rare that anyone reported to have it is more likely to have had an error made in their DNA analysis. Please contact info@snpedia.com with the subject "Rs28934578(A;A)" to discuss this.
C;T
This genotype is associated with Li Fraumeni syndrome. However, we have noticed a statistically unlikely increase in the number of customers of one DNA testing company who's genotype for this SNP is being incorrectly reported. This is likely to be a technical error - you probably actually carry the completely normal, unmutated genotype for this SNP. You should seek to have a clinically validated test carried out if you have either a significant family history of cancer or if you have any concerns about this. See https://www.reddit.com/r/23andme/comments/2xit8m/how_does_one_interpret_significance/
Source and license
Adapted from rs28934578 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.