ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.585del (p.His196fs)

dbSNP: rs786204901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169842 SCV000222163 pathogenic Hereditary cancer-predisposing syndrome 2014-05-16 criteria provided, single submitter clinical testing This variant is denoted c.585delT at the cDNA level and p.His196ThrfsX3 at the protein level. The normal sequence with the base that is deleted in braces is: TGTT{T}CACAA. The c.585delT mutation in the PTEN gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.585delT mutation causes a frameshift starting with codon Histidine 196, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.His196ThrfsX3. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.585delT mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant has been observed de novo with confirmed parentage. The variant is found in PTEN panel(s).

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