ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.131_134dup (p.Tyr46fs)

dbSNP: rs786202894
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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 RCV000165953 SCV000216710 pathogenic Hereditary cancer-predisposing syndrome 2014-10-14 criteria provided, single submitter clinical testing The c.131_134dupGCGT pathogenic mutation, located in coding exon 2 of the PTEN gene, results from a duplication of GCGT at position 131, 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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