|(C;C)||0||common in clinvar|
|(C;G)||2.5||somewhat possible association with Peutz-Jeghers syndrome|
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.[PMID 23788249]
|Disease||Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome not specified|
|CLNDBN||Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome not specified|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000007887.10, RCV000115593.6, RCV000122091.3, RCV000164163.1, RCV000411636.1,|
|qualified_impact||Insufficiently evaluated pathogenic|