Is TICAM1 p.Pro360= (c.1080T>G) pathogenic?

TICAM1 p.Pro360= (c.1080T>G) is classified Likely benign in TICAM1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-12-23). Very rare (popmax 0.00692%, nfe); Associated with herpes simplex encephalitis, susceptibility to, 4.

What condition is associated with TICAM1 p.Pro360= (c.1080T>G)?

TICAM1 p.Pro360= (c.1080T>G) is associated with herpes simplex encephalitis, susceptibility to, 4 (ClinVar).

How common is TICAM1 p.Pro360= (c.1080T>G) in the general population?

TICAM1 p.Pro360= (c.1080T>G) is very rare (popmax 0.00692%, nfe) (gnomAD).

TICAM1 p.Pro360=

c.1080T>G · rs754441119 · VCV731570

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00692%, nfe)

Conditions

herpes simplex encephalitis, susceptibility to, 4

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 -1.9	GERP -3.2
Overall
CADD	0.618	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00692% European (non-Finnish) · 81/1,170,582 alleles

Filtering AF 0.00567% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00519%

Overall 0.00521% 83/1,592,038 alleles · very rare exomes 78/1,453,566 · genomes 5/138,472 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00692%	14,452
Remaining individualsnot grpmax-eligible	0.00162%	61,818
African / African-American	0.00145%	69,024

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: TICAM1
Protein: p.Pro360=
Coding: c.1080T>G
MANE Select: NM_182919
dbSNP: rs754441119
Type: single nucleotide variant
Location: chr19:4817298 (GRCh38)
Gene constraint: LOEUF 1.802 · pLI 0.37 (gnomAD)
Structure: AlphaFold pLDDT 63.88 · 8 PDB
Residue 360: the 'disordered' region

Full TICAM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

herpes simplex encephalitis, susceptibility to, 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TICAM1 p.Ala111Thr Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala309Val Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala45Asp Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala45Val Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala684Thr Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala703Thr Uncertain significance ★★ ⚠ same condition
TICAM1 p.Arg132Gln Uncertain significance ★★ ⚠ same condition
TICAM1 p.Arg143Gln 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/ticam1-p-pro360 (accessed [today's date]).

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