ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.270dup (p.Glu91Ter)

dbSNP: rs1114167678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV000758227 SCV000886862 likely pathogenic PTEN hamartoma tumor syndrome 2023-06-14 reviewed by expert panel curation NM_000314.8(PTEN):c.270dup (p.Glu91Ter) variant meets criteria to be classified as likely pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (ACMG Classification Rules Specified for PTEN Variant Curation version 3.0.0). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5’ to c.1121 (NM_000314.8). PM2_P: Absent in large sequenced populations OR present at extremely low (<0.00001, 0.001%) allele frequency in the gnomAD cohort (PMID:27535533).
Ambry Genetics RCV000491651 SCV000580066 pathogenic Hereditary cancer-predisposing syndrome 2012-08-17 criteria provided, single submitter clinical testing 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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