TMEM210

Chr 9

transmembrane protein 210

Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
MultiplemechanismLOEUF 0.89
Clinical SummaryTMEM210
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.64) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.89LOEUF
pLI 0.645
Z-score 1.69
OE 0.00 (0.000.89)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
0.21Z-score
OE missense 0.93 (0.771.14)
70 obs / 75.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.89)
00.351.4
Missense OE?0.93 (0.771.14)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 0 / 3.3Missense obs/exp: 70 / 75.1Syn Z: 0.26

This gene — mechanism propensity

DN
0.6162th %ile
GOF
0.83top 10%
LOF
0.2872th %ile

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

GOFprediction above median
DNprediction 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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TMEM210 · 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.

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