ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.734+14C>A

dbSNP: rs763346212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002070234 SCV002328276 likely benign Peutz-Jeghers syndrome 2023-12-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356903 SCV001552189 likely benign Carcinoma of colon no assertion criteria provided clinical testing The STK11 c.734+14C>A variant was not identified in the literature nor was it identified in the ClinVar or LOVD 3.0 databases. The variant was identified in dbSNP (rs763346212) as “NA”. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The variant occurs at a non-highly conserved nucleotide outside of the splicing consensus sequence and 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.

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