rs59912467
A SNP in the STK11 gene on chromosome 19. Its most notable genotype is C;G: somewhat possible association with Peutz-Jeghers syndrome
- Gene
- STK11
- Location
- Chr 191,223,126 (GRCh38)
- Highest magnitude
- 2.5Worth knowing
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 1%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other STK11 SNPs
- rs9282859C;GSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913315A;GSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913321-;CSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913322C;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913324C;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs137853075A;CLikely miscall in Ancestry v2c data; otherwise, STK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs137853076A;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs137853077C;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
Notes
From SNPedia
Show notes, about 120 words
rs59912467, also known as F354L or Phe354Leu, is a SNP in the STK11 gene on chromosome 19. One report links the minor allele of this SNP to Peutz-Jeghers syndrome (PJS), however, that report also mentions that the patient's mother was asymptomatic, and since PJS is usually inherited in a dominant manner, this implies quite variable penetrance. In ClinVar, this mutation is listed as of uncertain significance, since there are reports indicating it is benign as well as reports indicating it is pathogenic. See also OMIM 602216.0024 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.
C;G
see discussion at rs59912467
Source and license
Adapted from rs59912467 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.