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 - 1.1
Curation History
JSON LD for Version 1.1

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: 2025-12-05

Published on: 2025-12-17

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

ENST00000700029.2:c.344A>G

ENST00000710265.1:c.344A>G

ENST00000472832.3:c.344A>G

ENST00000688158.2:n.1079A>G

ENST00000688922.2:c.*174A>G

ENST00000700021.1:c.299A>G

ENST00000700022.1:c.344A>G

ENST00000700029.1:c.178A>G

ENST00000706954.1:c.344A>G

ENST00000706955.1:c.*379A>G

ENST00000686459.1:c.344A>G

ENST00000688158.1:c.*455A>G

ENST00000688308.1:c.344A>G

ENST00000688922.1:c.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

PM2 BS3_Supporting PP2

PS3 BP4 PP3

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 3.1.0

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 (ACMG Classification Rules Specified for PTEN Variant Curation version 3.1.0). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PM2_P: 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. BS3_P: Functional studies showing no damaging effect on protein function. Score of this variant = 0.06 (>0, WT-like range) on high throughput phosphatase assay (PMID:29706350).

PM2

Absent in gnomAD v2 and v4

BS3_Supporting

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

PP2

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

BP4

REVEL=0.673

PP3

REVEL=0.673

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.