rs28933375

A SNP in the PRF1 gene on chromosome 10. Its most notable genotype is C;C: Familial Hemophagocytic Lymphohistiocytosis and Lymphoma

Gene
PRF1
Location
Chr 1070,598,966 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. C;TBadMissense mutation in PRF1 gene, probably recessiveMinor · 1.8
  3. C;CMost notableBadFamilial Hemophagocytic Lymphohistiocytosis and LymphomaVery important · 5.0

SNPedia records rs28933375 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.

Other PRF1 SNPs

All PRF1 SNPs

Notes

From SNPedia

Show notes, about 120 words

C;T

Probably benign when heterozygous (i.e. recessive), but in at least one case, compound heterozygosity with the Fas allele led to autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma in a patient with a mutant PRF1 gene (which mutation is not clear). This is a missense mutation in the perforin (PRF1) gene.

C;C

This mutation codes for a missense mutation in the perforin (PRF1) gene. It is suspected to be pathogenic. Most research suggests that it follows a recessive model, but in at least one case, a patient with heterozygous mutations in both PRF1 and FAS developed autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma. In most cases, a single G allele may be benign, but more research is needed.

Source and license

Adapted from rs28933375 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.