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.50_51delAA (p.Gln17Argfs)

Curation History

CA000167

141654 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 2b40684d-92f4-40ce-8062-ffd5a0278fbd

Approved on: 2017-10-18

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.50_51delAA

NM_000314.6(PTEN):c.50_51delAA (p.Gln17Argfs)

NM_000314.5:c.50_51del

NM_000314.6:c.50_51del

NM_001304717.2:c.569_570del

NM_001304718.1:c.-656_-655del

NM_000314.7:c.50_51del

NM_001304717.5:c.569_570del

NM_001304718.2:c.-656_-655del

ENST00000371953.7:c.50_51del

ENST00000462694.1:n.52_53del

ENST00000487939.1:n.71_72del

ENST00000610634.1:c.-53_-52del

ENST00000618586.1:n.19_20del

NC_000010.11:g.87864519_87864520del

CM000672.2:g.87864519_87864520del

NC_000010.10:g.89624276_89624277del

CM000672.1:g.89624276_89624277del

NC_000010.9:g.89614256_89614257del

NG_007466.2:g.6081_6082del

NG_033079.1:g.3918_3919del

Pathogenic

PM2 PVS1 PS4_Supporting

Evidence Links 1

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.50_51delAA (p.Q17RfsX26) 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: Present at extremely low (<0.00001, 0.001%) allele frequency in the gnomAD cohort. (PMID 27535533). PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 20223021)

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

PS4_Supporting

Proband(s) with phenotype specificity score of 1-1.5 PubMed:20223021

Curation History

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