Is TRIB2 p.Ser100= (c.300C>A) pathogenic?

TRIB2 p.Ser100= (c.300C>A) is classified Likely benign in TRIB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-04-01). Absent from gnomAD v4.1.

How common is TRIB2 p.Ser100= (c.300C>A) in the general population?

TRIB2 p.Ser100= (c.300C>A) is absent from gnomAD v4.1 (gnomAD).

TRIB2 p.Ser100=

c.300C>A · VCV4874062

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 -0.52	GERP -0.34, phastCons 0.015
Overall
CADD	9.31	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: TRIB2
Protein: p.Ser100=
Coding: c.300C>A
MANE Select: NM_021643
Type: single nucleotide variant
Location: chr2:12723289 (GRCh38)
Gene constraint: LOEUF 0.223 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 80.93 · 1 PDB
Residue 100: the protein kinase domain; an α-helix

Full TRIB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TRIB2 p.Ser100Tyr Uncertain significance ★ ⚠ same residue
TRIB2 c.563+10A>T Benign ★★ same type
TRIB2 p.Ala102Ser Uncertain significance ★ ⚠ same type
TRIB2 p.Ala109Asp Uncertain significance ★ ⚠ same type
TRIB2 p.Ala160Thr Uncertain significance ★ ⚠ same type
TRIB2 p.Arg13Lys Uncertain significance ★ ⚠ same type
TRIB2 p.Arg18Leu Uncertain significance ★ same type
TRIB2 p.Arg203Gln Uncertain significance ★ ⚠ same type

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/trib2-p-ser100 (accessed [today's date]).

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