Is TLR7 p.Ser844= (c.2532A>G) pathogenic?

TLR7 p.Ser844= (c.2532A>G) is classified Likely benign in TLR7 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-27). Very rare (popmax 0.000112%, nfe).

How common is TLR7 p.Ser844= (c.2532A>G) in the general population?

TLR7 p.Ser844= (c.2532A>G) is very rare (popmax 0.000112%, nfe) (gnomAD).

TLR7 p.Ser844=

c.2532A>G · VCV3690904

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000112%, nfe)

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 -0.96	GERP -3
Overall
CADD	2.322	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000112% European (non-Finnish) · 1/894,995 alleles

Overall 8.27e-05% 1/1,209,661 alleles · very rare exomes 0/1,097,973 · genomes 1/111,688 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: TLR7
Protein: p.Ser844=
Coding: c.2532A>G
MANE Select: NM_016562
Type: single nucleotide variant
Location: chrX:12888040 (GRCh38)
Structure: AlphaFold pLDDT 87.60 · 1 PDB

Full TLR7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TLR7 p.Arg357Cys Uncertain significance ★★ ⚠ same type
TLR7 p.Asn159Asp Uncertain significance ★★ ⚠ same type
TLR7 p.Asn720Ser Uncertain significance ★★ ⚠ same type
TLR7 p.Asp198Gly Uncertain significance ★★ ⚠ same type
TLR7 p.Asp438Val Uncertain significance ★★ ⚠ same type
TLR7 p.Cys889Tyr Uncertain significance ★★ ⚠ same type
TLR7 p.Gln117Lys Uncertain significance ★★ ⚠ same type
TLR7 p.Gln823Glu 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/tlr7-p-ser844 (accessed [today's date]).

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