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_000314.6(PTEN):c.987_990delTAAA (p.Asn329Lysfs)

Curation History

CA000656

189441 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: e41ad782-4c9c-4ae6-ba02-ec2e11c967fc

Approved on: 2017-10-18

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.987_990delTAAA

NM_000314.6(PTEN):c.987_990delTAAA (p.Asn329Lysfs)

NM_000314.5:c.987_990del

NM_000314.6:c.987_990del

NM_001304717.2:c.1506_1509del

NM_001304718.1:c.396_399del

NM_000314.7:c.987_990del

NM_001304717.5:c.1506_1509del

NM_001304718.2:c.396_399del

ENST00000371953.7:c.987_990del

ENST00000472832.2:n.414_417del

NC_000010.11:g.87961079_87961082del

CM000672.2:g.87961079_87961082del

NC_000010.10:g.89720836_89720839del

CM000672.1:g.89720836_89720839del

NC_000010.9:g.89710816_89710819del

NG_007466.2:g.102641_102644del

Pathogenic

PS4_Supporting PM2 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.987_990delTAAA (p.N329KfsX14) meets criteria to be classified as pathogenic 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). 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 10232405)

PS4_Supporting

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

PM2

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

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.