ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.1027-4C>G

dbSNP: rs587782788
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV000475300 SCV001244240 uncertain significance PTEN hamartoma tumor syndrome 2023-12-01 reviewed by expert panel curation PTEN c.1027-4C>G (IVS8-4C>G) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (ACMG Classification Rules Specified for PTEN Variant Curation version 3.0.0). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). BP4: Intronic variant where at least 2 out of 3 in silico models predict no splicing impact.
Ambry Genetics RCV000132337 SCV000187426 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-06 criteria provided, single submitter clinical testing The c.1027-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 9 in the PTEN gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000434984 SCV000520747 likely benign not specified 2015-11-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000475300 SCV000541609 likely benign PTEN hamartoma tumor syndrome 2024-12-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000132337 SCV000913521 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477561 SCV004219122 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect PTEN mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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