Is TGFBR2 p.Val87= (c.261A>C) pathogenic?

TGFBR2 p.Val87= (c.261A>C) is classified Likely benign in TGFBR2 (ClinVar, Single submitter, 1 submitter). Absent from gnomAD v4.1; Associated with diabetic retinopathy.

What condition is associated with TGFBR2 p.Val87= (c.261A>C)?

TGFBR2 p.Val87= (c.261A>C) is associated with diabetic retinopathy (ClinVar).

How common is TGFBR2 p.Val87= (c.261A>C) in the general population?

TGFBR2 p.Val87= (c.261A>C) is absent from gnomAD v4.1 (gnomAD).

TGFBR2 p.Val87=

c.261A>C · rs1266465311 · VCV3220876

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

diabetic retinopathy

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 -0.12	GERP -4.8, phastCons 0.14
Overall
CADD	8.429	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: TGFBR2
Protein: p.Val87=
Coding: c.261A>C
MANE Select: NM_003242
dbSNP: rs1266465311
Type: single nucleotide variant
Location: chr3:30644913 (GRCh38)
Gene constraint: LOEUF 0.531 · pLI 0.91 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 81.22 · 22 PDB
Residue 87: a β-strand

Full TGFBR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

diabetic retinopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TGFBR2 p.Val87Leu Uncertain significance ★ same residue
TGFBR2 c.264-11C>T Likely benign ★★ same condition
TGFBR2 c.264-289G>A Benign/Likely benign ★★ same condition
TGFBR2 c.264-35T>G Benign/Likely benign ★★ same condition
TGFBR2 c.264-5T>G Likely benign ★★ same condition
TGFBR2 c.94+16202A>G Benign/Likely benign ★★ same condition
TGFBR2 c.94+16236G>A Likely benign ★★ same condition
TGFBR2 c.94+16238C>T Benign/Likely benign ★★ 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/tgfbr2-p-val87 (accessed [today's date]).

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