rs59912467

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	2.5	somewhat possible association with Peutz-Jeghers syndrome

Make rs59912467(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1223126

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs59912467
dbSNP (classic)	rs59912467
ClinGen	rs59912467
ebi	rs59912467
HLI	rs59912467
Exac	rs59912467
Gnomad	rs59912467
Varsome	rs59912467
LitVar	rs59912467
Map	rs59912467
PheGenI	rs59912467
Biobank	rs59912467
1000 genomes	rs59912467
hgdp	rs59912467
ensembl	rs59912467
geneview	rs59912467
scholar	rs59912467
google	rs59912467
pharmgkb	rs59912467
gwascentral	rs59912467
openSNP	rs59912467
23andMe	rs59912467
SNPshot	rs59912467
SNPdbe	rs59912467
MSV3d	rs59912467
GWAS Ctlg	rs59912467

GMAF

0.01286

Max Magnitude

2.5

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 ]

ClinVar
Risk	rs59912467(G;G) rs59912467(T;T)
Alt	rs59912467(G;G) rs59912467(T;T)
Reference	Rs59912467(C;C)
Significance	Other
Disease	Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	STK11
CLNDBN	Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome not specified
Reversed	0
HGVS	NC_000019.9:g.1223125C>G; NC_000019.9:g.1223125C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007887.10, RCV000115593.6, RCV000122091.3, RCV000164163.1, RCV000411636.1,