ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.465-4G>A (rs587780009)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213012 SCV000149508 likely benign not specified 2017-11-28 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 RCV000115599 SCV000172815 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Insufficient or conflicting evidence
Invitae RCV000144662 SCV000253256 likely benign Peutz-Jeghers syndrome 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213012 SCV000540466 likely benign not specified 2016-12-15 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This is a splice variant in intron 3 of STK11 (10 total exons). The variant has been reported in one individual with Peutz Jeghers (Aretz 2005). This variant is has a Max MAF of 0.07% in ExAC (7 South Asian alleles) and 0.04% in gnomAD (12 South Asian alleles). Classified as Likely benign by 3 submitters (GeneDx, Ambry, Invitae) and VUS by Pathway Genomics.
Counsyl RCV000144662 SCV000785989 uncertain significance Peutz-Jeghers syndrome 2018-01-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679320 SCV000806082 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Color RCV000115599 SCV000902841 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Pathway Genomics RCV000144662 SCV000189991 uncertain significance Peutz-Jeghers syndrome 2014-07-24 no assertion criteria provided clinical testing

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