ClinVar

Description

The STK11 p.Ser428= variant was not identified in the literature. The variant was identified in dbSNP (ID: rs369097329) as “With Likely benign allele”, ClinVar (3x as likely benign by Ambry Genetics, Invitae, Color) and LOVD 3.0 (1x as benign). The variant was identified in control databases in 5 of 135876 chromosomes at a frequency of 0.000037 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: East Asian in 5 of 9960 chromosomes (freq: 0.0005), but not in the African, Other, Latino, European Non-Finnish, Ashkenazi Jewish, European Finnish or South Asian populations. The p.Ser428= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.