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.469G>T (p.Glu157Ter)

CA000467

7814 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: c8a8caba-2251-491c-8758-14da15b51065

Approved on: 2018-10-30

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.469G>T

NM_000314.6(PTEN):c.469G>T (p.Glu157Ter)

NC_000010.11:g.87933228G>T

CM000672.2:g.87933228G>T

NC_000010.10:g.89692985G>T

CM000672.1:g.89692985G>T

NC_000010.9:g.89682965G>T

NG_007466.2:g.74790G>T

NM_000314.5:c.469G>T

NM_001304717.2:c.988G>T

NM_001304718.1:c.-282G>T

NM_000314.7:c.469G>T

NM_001304717.5:c.988G>T

NM_001304718.2:c.-282G>T

ENST00000371953.7:c.469G>T

ENST00000498703.1:n.295G>T

ENST00000610634.1:c.367G>T

Pathogenic

PM2 PS4_Supporting PVS1

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.469G>T (p.E157X) meets criteria to be classified as pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). 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_000314.4). PM2: Absent in large sequenced populations (PMID 27535533). PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 8071972)

PM2

Absent gnomAD

PS4_Supporting

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

PVS1

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

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