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rs59912467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 2.5 somewhat possible association with Peutz-Jeghers syndrome
Make rs59912467(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position1223126
GeneSTK11
is asnp
is mentioned by
dbSNPrs59912467
ebirs59912467
HLIrs59912467
Exacrs59912467
Varsomers59912467
Maprs59912467
PheGenIrs59912467
hapmaprs59912467
1000 genomesrs59912467
hgdprs59912467
ensemblrs59912467
gopubmedrs59912467
geneviewrs59912467
scholarrs59912467
googlers59912467
pharmgkbrs59912467
gwascentralrs59912467
openSNPrs59912467
23andMers59912467
23andMe allrs59912467
SNP Nexus

SNPshotrs59912467
SNPdbers59912467
MSV3drs59912467
GWAS Ctlgrs59912467
GMAF0.01286
Max Magnitude2.5

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 23788249OA-icon.png]


ClinVar
Risk rs59912467(G,T;G,T)
Alt rs59912467(G,T;G,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 Inc. OMIM Allelic Variant
CLNACC RCV000007887.8, RCV000115593.6, RCV000122091.1, RCV000164163.1,



GET Evidence
STK11-F354L
aa_change Phe354Leu
aa_change_short F354L
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00397501
summary