ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.783_784del (p.Asn262fs)

dbSNP: rs1554825249
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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 RCV000572870 SCV000671703 pathogenic Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing The c.783_784delGA pathogenic mutation, located in coding exon 7 of the PTEN gene, results from a deletion of two nucleotides at nucleotide positions 783 to 784, causing a translational frameshift with a predicted alternate stop codon. This mutation (designated as deletion of GA in N262) was identified in a 33 year-old male patient with Lhermitte-Duclos disease, macrocephaly, and Cowden syndrome-related skin abnormalities (Nelen MR et al. Hum. Mol. Genet. 1997 Aug;6:1383-7). In addition to the clinical data presented in the literature, 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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