IGHV3OR16-8

Chr 16

immunoglobulin heavy variable 3/OR16-8 (non-functional)

Also known as: IGHV3/OR16-8, IGHV3OR168

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
1
Pathogenic / LP
14
ClinVar variants
2
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryIGHV3OR16-8
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 1 VUS of 14 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.88top 5%
GOF
0.75top 25%
LOF
0.2289th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

14 submitted variants in ClinVar

Classification Summary

Pathogenic1
VUS1
Benign12
1
Pathogenic
1
VUS
12
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
Likely Pathogenic
0
VUS
1
Likely Benign
0
Benign
12
Total14

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

IGHV3OR16-8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found