Is CD81 p.Gln118Ter (c.352C>T) pathogenic?

CD81 p.Gln118Ter (c.352C>T) is classified Uncertain significance in CD81 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-02-08). Absent from gnomAD v4.1; Associated with immunodeficiency, common variable, 6.

What condition is associated with CD81 p.Gln118Ter (c.352C>T)?

CD81 p.Gln118Ter (c.352C>T) is associated with immunodeficiency, common variable, 6 (ClinVar).

How common is CD81 p.Gln118Ter (c.352C>T) in the general population?

CD81 p.Gln118Ter (c.352C>T) is absent from gnomAD v4.1 (gnomAD).

CD81 p.Gln118Ter

c.352C>T · rs2496532570 · VCV2439820

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

immunodeficiency, common variable, 6

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 4 of 8
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.8	GERP -3.7, phastCons 1
Overall
CADD	50.0	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: CD81
Protein: p.Gln118Ter
Coding: c.352C>T
MANE Select: NM_004356
dbSNP: rs2496532570
Type: single nucleotide variant
Location: chr11:2395044 (GRCh38)
Gene constraint: LOEUF 0.702 · pLI 0.36 (gnomAD)
Structure: AlphaFold pLDDT 87.24 · 16 PDB
Residue 118: an α-helix

Full CD81 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

immunodeficiency, common variable, 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CD81 p.Gln118Arg Uncertain significance ★ ⚠ same residue
CD81 p.Asn141Lys Uncertain significance ★★ ⚠ same condition
CD81 p.Asp137Asn Uncertain significance ★★ ⚠ same condition
CD81 p.Asp195Asn Uncertain significance ★★ ⚠ same condition
CD81 c.459+4C>T Benign/Likely benign ★★ same condition
CD81 c.648+10C>T Benign/Likely benign ★★ same condition
CD81 p.Asp138= Benign/Likely benign ★★ same condition
CD81 p.Pro53= 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/cd81-p-gln118ter (accessed [today's date]).

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