ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.512_515del (p.Gln171fs)

dbSNP: rs1114167635
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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 RCV000491839 SCV000579989 pathogenic Hereditary cancer-predisposing syndrome 2015-05-14 criteria provided, single submitter clinical testing The c.512_515delAGAG pathogenic mutation, located in exon 6 of the PTEN gene, results from a deletion of 4 nucleotides between positions 512 and 515, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this mutation is interpreted as disease-causing (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med 2008;10:294).

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