ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.502del (p.Ile168fs)

dbSNP: rs1114167631
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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 RCV000491744 SCV000579983 pathogenic Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing The c.502delApathogenic mutation, located in coding exon 6 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 502, causing a translational frameshift with a predicted alternate stop codon. This mutation was reported in one 33 year old individual meeting relaxed Cowden syndrome clinical criteria<span data-redactor="verified" style="background-color: initial;">(Tan MH et al. <i style="background-color: initial;">Am J Hum Genet.<span data-redactor="verified" style="background-color: initial;"> 2011 Jan 7;88(1):42-56).<span data-redactor="verified" style="background-color: initial;">In addition to the clinical data presented in the literature, 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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