ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.81_82insCT (p.Ile28fs)

dbSNP: rs786203477
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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 RCV000166796 SCV000217610 pathogenic Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing The c.81_82insCT pathogenic mutation, located in coding exon 2 of the PTEN gene, results from an insertion of two nucleotides at position 81, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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