Is TRIM28 p.Ser17= (c.51T>G) pathogenic?

TRIM28 p.Ser17= (c.51T>G) is classified Likely benign in TRIM28 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-01). No allele count reported in gnomAD v4.1 (AN 1,222,128).

How common is TRIM28 p.Ser17= (c.51T>G) in the general population?

TRIM28 p.Ser17= (c.51T>G) is no allele count reported in gnomAD v4.1 (AN 1,222,128) (gnomAD).

TRIM28 p.Ser17=

c.51T>G · rs1203938816 · VCV2650593

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,222,128)

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	GERP -3.2
Overall
CADD	7.858	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,222,128). 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: TRIM28
Protein: p.Ser17=
Coding: c.51T>G
MANE Select: NM_005762
dbSNP: rs1203938816
Type: single nucleotide variant
Location: chr19:58544808 (GRCh38)
Gene constraint: LOEUF 0.17 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 67.59 · 10 PDB
Residue 17: the 'disordered' region

Full TRIM28 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TRIM28 p.Ala537Val Uncertain significance ★★ ⚠ same type
TRIM28 p.Arg412His Uncertain significance ★★ ⚠ same type
TRIM28 p.Arg706Cys Uncertain significance ★★ ⚠ same type
TRIM28 p.Arg767His Uncertain significance ★★ ⚠ same type
TRIM28 p.Arg795Cys Uncertain significance ★★ ⚠ same type
TRIM28 p.Asp231Tyr Uncertain significance ★★ ⚠ same type
TRIM28 p.Glu798Asp Uncertain significance ★★ ⚠ same type
TRIM28 p.Gly735Ala 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/trim28-p-ser17 (accessed [today's date]).

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