ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.491del (p.Lys164fs) (rs786204900)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169841 SCV000222162 pathogenic Hereditary cancer-predisposing syndrome 2013-12-04 criteria provided, single submitter clinical testing This variant is denoted c.491delA at the cDNA level and p.K164RfsX3 at the protein level. Using capital letters to denote exonic sequence and lower case letters to denote intronic sequence, the reference sequence with the base that is deleted in braces is: CAAAA{A}Ggtaag. The c.491delA mutation in the PTEN gene has been reported previously in association with Cowden syndrome, Cowden-like syndrome, and PTEN hamartoma tumor syndrome (Bussaglia et al., 2002; Heindl et at., 2012; Ngeow et al., 2011). Ngeow et al. reported that the c.491delA mutation was present in a patient diagnosed with Cowden/Cowden-like syndrome and thyroid cancer. The deletion causes a frameshift starting with codon Lysine 164, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Lys164ArgfsX3. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in PTEN panel(s).
Invitae RCV000477296 SCV000541632 pathogenic PTEN hamartoma tumor syndrome 2019-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys164Argfs*3) in the PTEN gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in in several individuals affected with PTEN hamartoma tumor syndrome and Cowden syndrome (PMID: 24345843, 22266152, 21956414, 11918710, 17392703, 21956414). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000169841 SCV000579976 pathogenic Hereditary cancer-predisposing syndrome 2017-07-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000581985 SCV000692012 pathogenic not provided no assertion criteria provided clinical testing

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