Is AKT1 p.Phe73= (c.219C>T) pathogenic?

AKT1 p.Phe73= (c.219C>T) is classified Likely benign in AKT1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-04). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with AKT1 p.Phe73= (c.219C>T)?

AKT1 p.Phe73= (c.219C>T) is associated with Inborn genetic diseases (ClinVar).

How common is AKT1 p.Phe73= (c.219C>T) in the general population?

AKT1 p.Phe73= (c.219C>T) is absent from gnomAD v4.1 (gnomAD).

AKT1 p.Phe73=

c.219C>T · rs2140930515 · VCV1787555

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.3	GERP -4.1, phastCons 1
Overall
CADD	14.62	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: AKT1
Protein: p.Phe73=
Coding: c.219C>T
MANE Select: NM_001382430
dbSNP: rs2140930515
Type: single nucleotide variant
Location: chr14:104776727 (GRCh38)
Gene constraint: LOEUF 0.474 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 83.62 · 55 PDB
Residue 73: the ph domain; a β-strand

Full AKT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AKT1 p.Phe73Cys Uncertain significance ★ ⚠ same residue
AKT1 p.Arg346Cys Uncertain significance ★★ ⚠ same condition
AKT1 p.Asn128Ile Uncertain significance ★★ ⚠ same condition
AKT1 p.Asn324Ser Uncertain significance ★★ ⚠ same condition
AKT1 p.Asn351Ser Uncertain significance ★★ ⚠ same condition
AKT1 p.Asp119Gly Uncertain significance ★★ ⚠ same condition
AKT1 p.Glu117Asp Uncertain significance ★★ ⚠ same condition
AKT1 p.Glu397Lys Uncertain significance ★★ ⚠ same condition

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/akt1-p-phe73 (accessed [today's date]).

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