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]

Variant: NM_000314.8(PTEN):c.98T>C (p.Ile33Thr)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA377784441

536543 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: f6a08006-11c7-477b-ada6-f8036dd41765

Approved on: 2023-10-11

Published on: 2023-10-16

HGVS expressions

NM_000314.8:c.98T>C

NM_000314.8(PTEN):c.98T>C (p.Ile33Thr)

NC_000010.11:g.87894043T>C

CM000672.2:g.87894043T>C

NC_000010.10:g.89653800T>C

CM000672.1:g.89653800T>C

NC_000010.9:g.89643780T>C

NG_007466.2:g.35605T>C

ENST00000686459.1:c.98T>C

ENST00000688158.1:c.*275+13605T>C

ENST00000688308.1:c.98T>C

ENST00000693560.1:c.617T>C

ENST00000371953.8:c.98T>C

ENST00000371953.7:c.98T>C

ENST00000462694.1:n.100T>C

ENST00000610634.1:c.-5T>C

NM_000314.5:c.98T>C

NM_000314.6:c.98T>C

NM_001304717.2:c.617T>C

NM_001304718.1:c.-608T>C

NM_000314.7:c.98T>C

NM_001304717.5:c.617T>C

NM_001304718.2:c.-608T>C

Uncertain Significance

PM2_Supporting PP3 PP2

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specification: ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

NM_000314.8(PTEN):c.98T>C (p.Ile33Thr) is currently classified as a variant of uncertain significance 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). PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease. PP3: REVEL score > 0.7 (score of this variant = 0.972) PM2_P: Absent in gnomAD database

PM2_Supporting

Absent in gnomAD database

PP3

REVEL score > 0.7 (score of this variant = 0.972)

PP2

PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease.

Curation History

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