ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.141del (p.Asn48fs)

dbSNP: rs1114167670
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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 RCV000491825 SCV000580052 pathogenic Hereditary cancer-predisposing syndrome 2015-02-18 criteria provided, single submitter clinical testing The c.141delG pathogenic mutation, located in coding exon 2 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 141, causing a translational frameshift with a predicted alternate stop codon. This mutation has been previously identified in one kindred with multiple individuals fulfilling clinical diagnostic criteria for Cowden syndrome as well as a strong family history of malignancies, including two individuals affected with thyroid cancer (Lachlan KL, J. Med. Genet. 2007 Sep; 44(9):579-85). 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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