Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_000314.6(PTEN):c.1026+32T>G

CA000255

92810 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 30a41c35-daf4-47cc-b83c-ccf0c557f631

HGVS expressions

NM_000314.6:c.1026+32T>G

NM_000314.6(PTEN):c.1026+32T>G

NC_000010.11:g.87961150T>G

CM000672.2:g.87961150T>G

NC_000010.10:g.89720907T>G

CM000672.1:g.89720907T>G

NC_000010.9:g.89710887T>G

NG_007466.2:g.102712T>G

NM_000314.5:c.1026+32T>G

NM_001304717.2:c.1545+32T>G

NM_001304718.1:c.435+32T>G

NM_000314.7:c.1026+32T>G

NM_001304717.5:c.1545+32T>G

NM_001304718.2:c.435+32T>G

ENST00000371953.7:c.1026+32T>G

ENST00000472832.2:n.485T>G

Benign

BA1

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.1026+32T>G (IVS8+32T>G) meets criteria to be classified as benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). BA1: Allele frequency of 0.374 (37.4%, 102,771/274,696 alleles) in the gnomAD cohort. (PMID 27535533)

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Approved on: 2016-09-14

Published on: 2018-12-10

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