ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.209+2047A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002424039 SCV002725030 likely pathogenic Hereditary cancer-predisposing syndrome 2022-10-19 criteria provided, single submitter clinical testing The c.209+2047A>G intronic variant results from an A to G substitution 2047 nucleotides after coding exon 3 in the PTEN gene. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with PTEN hamartoma tumor syndrome (Ambry internal data). This nucleotide position is well conserved on limited sequence alignment. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV003236593 SCV003934991 likely pathogenic PTEN hamartoma tumor syndrome 2023-06-22 no assertion criteria provided clinical testing The following ACMG criteria is used: PVS1 (RNA), PM2_Supporting (not reported in gnomAD)

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