Is PTEN p.Phe145Arg (c.432_435delinsGAGG) pathogenic?

PTEN p.Phe145Arg (c.432435delinsGAGG) is classified Uncertain significance in PTEN (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-01-01). No gnomAD frequency available for this variant; Associated with prostate cancer, hereditary, 1.

What condition is associated with PTEN p.Phe145Arg (c.432_435delinsGAGG)?

PTEN p.Phe145Arg (c.432_435delinsGAGG) is associated with prostate cancer, hereditary, 1 (ClinVar).

How common is PTEN p.Phe145Arg (c.432_435delinsGAGG) in the general population?

PTEN p.Phe145Arg (c.432_435delinsGAGG) is no gnomAD frequency available for this variant (gnomAD).

How is Familial prostate cancer inherited?

Typically Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

PTEN p.Phe145Arg

c.432_435delinsGAGG · rs2493718489 · VCV2687610

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

prostate cancer, hereditary, 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3	GERP 0.1, phastCons 1
Regional constraint	o/e 0.51	unconstrained · MANE · 32 kb · p 4.1e-17 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: PTEN
Protein: p.Phe145Arg
Coding: c.432_435delinsGAGG
MANE Select: NM_000314
dbSNP: rs2493718489
Type: Indel
Location: chr10:87933191 (GRCh38)
Gene constraint: LOEUF 0.685 · pLI 0.05 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 83.76 · 12 PDB
Residue 145: the phosphatase tensin-type domain; a UniProt-annotated variant site (in mcephas)

Full PTEN gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

prostate cancer, hereditary, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial prostate cancer (Orphanet):

Inheritance: Not applicable
Onset: Adult
Prevalence: 1-9 / 100 000 (United States)

Similar variants

PTEN p.Phe145Val Uncertain significance ★ ⚠ same residue
PTEN p.Phe145_Leu146delinsLeuIle Uncertain significance same residue
PTEN p.Phe145_Leu146insTer Uncertain significance same residue
PTEN p.Phe145fs Uncertain significance same residue
PTEN p.Phe145Ile Uncertain significance ⚠ same residue
PTEN p.Phe145Leu Uncertain significance ★ ⚠ same residue
PTEN p.Phe145Ser Uncertain significance ★ ⚠ same residue
PTEN p.Phe145Tyr Uncertain significance ★ ⚠ same residue

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/pten-p-phe145arg (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown