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.344A>G (p.Asp115Gly)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA357805

224542 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 688c72fc-fd4f-44c9-8402-d1bc527d070d

Approved on: 2021-06-04

Published on: 2022-09-30

HGVS expressions

NM_000314.8:c.344A>G

NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)

NC_000010.11:g.87933103A>G

CM000672.2:g.87933103A>G

NC_000010.10:g.89692860A>G

CM000672.1:g.89692860A>G

NC_000010.9:g.89682840A>G

NG_007466.2:g.74665A>G

ENST00000686459.1:c.344A>G

ENST00000688158.1:c.*455A>G

ENST00000688308.1:c.344A>G

ENST00000688922.1:n.265A>G

ENST00000693560.1:c.863A>G

ENST00000371953.8:c.344A>G

ENST00000371953.7:c.344A>G

ENST00000498703.1:n.170A>G

ENST00000610634.1:c.242A>G

NM_000314.5:c.344A>G

NM_000314.6:c.344A>G

NM_001304717.2:c.863A>G

NM_001304718.1:c.-407A>G

NM_000314.7:c.344A>G

NM_001304717.5:c.863A>G

NM_001304718.2:c.-407A>G

Uncertain Significance

PP2 PM2

PS3 BS3

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specification: ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.344A>G (p.Asp115Gly) is currently classified as a variant of uncertain significance 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). PM2: Absent in large sequenced populations (PMID 27535533). 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.

PP2

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

PS3

Mighell score 0.06 (WT-like) Matreyek score “low” but score 0.53, SD 0.21, not low enough to earn criteria

BS3

Mighell score 0.06 (WT-like) Matreyek score “low” but score 0.53, SD 0.21, not low enough to earn criteria

Curation History

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