Submissions for variant NM_000455.5(STK11):c.734+20G>A

gnomAD frequency: 0.00007  dbSNP: rs375315233

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000213017	SCV000171888	benign	not specified	2014-02-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000128909	SCV000172776	likely benign	Hereditary cancer-predisposing syndrome	2016-11-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl	RCV000410646	SCV000489195	likely benign	Peutz-Jeghers syndrome	2016-08-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000128909	SCV000686683	likely benign	Hereditary cancer-predisposing syndrome	2015-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000410646	SCV002057428	likely benign	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000410646	SCV002363949	likely benign	Peutz-Jeghers syndrome	2025-02-02	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149874	SCV003837869	uncertain significance	Breast and/or ovarian cancer	2022-03-15	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000213017	SCV005089910	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Molecular Diagnostics Laboratory, Catalan Institute of Oncology	RCV000128909	SCV005901608	likely benign	Hereditary cancer-predisposing syndrome	2025-02-18	criteria provided, single submitter	clinical testing	BP4, BP7 STK11:c.734+20G>A is an intronic variant located close to a canonical splice site. The SpliceAI algorithm predicts no significant impact on splicing (BP4). To our knowledge, neither relevant clinical data nor well-established functional studies have been reported for this variant. This variant has been reported in the ClinVar database (1x benign, 7x likely benign, 2x uncertain significance) and has not been reported in LOVD. Based on currently available information, the variant c.734+20G>A should be considered a likely benign variant according to ACMG/AMP classification guidelines.
Mayo Clinic Laboratories, Mayo Clinic	RCV000213017	SCV000692049	uncertain significance	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915281	SCV004737875	likely benign	STK11-related disorder	2022-11-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).