ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.165-3_165del

dbSNP: rs1554897249
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571186 SCV000676258 pathogenic Hereditary cancer-predisposing syndrome 2016-07-09 criteria provided, single submitter clinical testing The c.165-3_165delAAGG pathogenic mutation, located at the 5' end of coding exon 3 of the PTEN gene, results from a deletion of 3 intronic nucleotides and 1 exonic nucleotide at positions 165-3 to 165. This deletion spans the native splice acceptor sequence and is predicted to abolish this site by the BDGP and ESEfinder in silico splicing models. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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