Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014398 | SCV001175098 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-07-22 | criteria provided, single submitter | clinical testing | The c.209+2T>G intronic variant results from a T to G substitution two nucleotides after coding exon 3 in the PTEN gene. This nucleotide position is highly conserved in available vertebrate species. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNA decay; however, direct evidence is unavailable. The exact functional effect of the missing amino acids is unknown; however, the impacted region is critical for protein function. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |